STRC

stereocilin

Basic information

Region (hg38): 15:43599562-43618800

Previous symbols: [ "DFNB16" ]

Links

ENSG00000242866

∙ NCBI:161497 ∙ OMIM:606440 ∙ HGNC:16035 ∙ Uniprot:Q7RTU9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

autosomal recessive nonsyndromic hearing loss 16 (Strong), mode of inheritance: AR
autosomal recessive nonsyndromic hearing loss 16 (Strong), mode of inheritance: AR
hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
nonsyndromic genetic hearing loss (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal recessive 16	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	9429146; 10090914; 11687802; 21686705; 19246478

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STRC gene.

not specified (77 variants)
not provided (63 variants)
Autosomal recessive nonsyndromic hearing loss 16 (52 variants)
Inborn genetic diseases (41 variants)
Rare genetic deafness (22 variants)
STRC-related condition (16 variants)
Deafness-infertility syndrome;Autosomal recessive nonsyndromic hearing loss 16;Spermatogenic failure 7 (2 variants)
Nonsyndromic genetic hearing loss (2 variants)
Deafness-infertility syndrome (1 variants)
Autosomal dominant nonsyndromic hearing loss 16 (1 variants)
Spermatogenic failure 7;Deafness-infertility syndrome;Autosomal recessive nonsyndromic hearing loss 16 (1 variants)
Hearing impairment (1 variants)
Deafness-infertility syndrome;Spermatogenic failure 7;Autosomal recessive nonsyndromic hearing loss 16 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRC gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				13 clinvar	6 clinvar	19
missense		4 clinvar	82 clinvar	8 clinvar	4 clinvar	98
nonsense	14 clinvar	7 clinvar				21
start loss						0
frameshift	5 clinvar	7 clinvar				12
inframe indel					1 clinvar	1
splice donor/acceptor (+/-2bp)	1 clinvar	2 clinvar				3
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)		2	2	4	1	9
non coding ? UTR, intron and other, non coding variants			1 clinvar	7 clinvar	13 clinvar	21
Total	20	20	83	28	24

Highest pathogenic variant AF is 0.000105

Variants in STRC

This is a list of pathogenic ClinVar variants found in the STRC region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
15-43599671-CTCATAGCAGGTGGCCAAGGAAGCTGATAGTCAATACCAGGGACCAGGAAGGTCGTGACCAGTCCTGGAGGCCCCAGGCTGTACTTCGACCTATAATAGACAGGGAATGGGAGTAATATCACAACTCAGCTCTCCAGGAGCATTGATACTTGGAAATTAGCGCTCTGCCTGTAGACTCCTTCACTCCAGGGATCTCCCTGGGTGCACTCTAAGAGCCAGACAGCACCAAATTAGGGGTTTGATTCTGGGTCAGGAGATGGAGGATCAAGCTGTGCAGCTGGGAACTCACCTTGCTGTTCTGGGCTCTCCTTTCCCTCATGTTGGGCCCATGCAACTGCTCGTCGCTGCTCAGGACTCAGAAAGGCCATTTGCTCAGGAGTGACAGCCACAGCCTGAGCACTGGTGAGACTAGATAGTTGGATGGGACTAAACACCACCTGAGGGCAGGGGTAGGAATCAGTGCATGCATGTAGTCCCCATTGGGCCCTGGCTCTCCTGTGGTCACCCCAGTCCATTAATACTTACAGCAAATTTAGGAGGAGGGATGACAGAAATGGCAAGAGGAGTAACGCCCTGGATCTGTCCCCGCAGCAGTGCTGAAAGAGCCAGGTCTGGGATCCCAGCTGTTGAAGCAAGTGGCATCCAAACATTGTCTTAGACTGACCTTCCCTCTCTTCAAACCTATAGACCTTCTCTAACTACTCCCAAAGTGCCCTATCATAGACCTTCCCCAATATGTCTCTAGCCCCTTATTTAAACACCCTCAGGCCCCCACCTTAAGAATTGCAGGGCAGTCTTCCATCCAGTCCACCCATGGTATAGAAACCAAACCAACTTGCACCAGCAGTGGCCCAGCTCCCCACCTGCTATGGTGCCAATTTCAGTGAAGATCTCAGGCCCCCAGTTACTGATTGGGCCAAACCCACCAGGCAGTACAAGTAGGTGGGCCAGAACCTCCAGTTGTTCCTCAGAGCACTGGAGATGCAGGGTGCCGAGGAAGAGAGCTGCTTGGCTGTAGAACAGTAGGAAGGAAGGAAGAAGAATTCGGCTTCAGTGAAAGGGGCTGTGGTCATGAGACAAAGGAAGAGATGGCTTCAAATGAGTTCCCTTCCTCCATGGGACCAGACCTTCATGATCCTTCTTTCCCCAGTAAGTCCACCTTTACCTCAGCACCACCACCCTCAGCCCCTTCACAAATGACCTGAACTCCCAACTGCTGATGTGCTGGAGCTCCTCTGGCCGCAGTCCACAGAGAGTATAACCCAGCGCTGTCAGATGAACGAAGTCCAGGTGGCTCACATGCCGACCACTCTGCCGTAGGAAACTGGAGACCACAATGCGGAGCTGGGGTGGGGGGTGGGAGAAGAGGGGAAGGAGGAAAGTTATGGAGAATTAATGGACAGGGAAGTGATAGGTGTTACTGGGTTATATTCTGTTACTATTAAGACCTAAGGAGTCATGGGGAAGGCTGAGGACTCAGAAAAGAAAAGGAAAGAAAAAGAGGAAGCCTCCAGGAAAAGAGGTAGGAGACAGTATTATGTGTCCAGGGCCTCAGAGTGAATAAATCAGAGTCCTGAAGGTCACTAGTATGGGGTATCAACAAAAGATAGAAAGAAGGACCAGGTAGGGTCACAGGAAAAAAATTCCTTGGGCTTTAGATGATCTATAGGGCTGGGTCTGTGGGATGGGTGTTTGGGAAGCCGTAGGGAGGAGGAAAAGTGTTACCTGAGTGGTGCTCCAGCCATCTATCTGCCCCAGGGTGCTCAGCACTCCCCAGTCCACTAGGATCAGCTCCTGTAGTTCCCGATCTCCTAGACCTATTAAGAGCCTACCAAGCTGCAGGATCTGCTCAGGACGAAATCCCCGGGGGGGACCCCACAACTAGGAGAAAGACAGGAACAATGTGAGTGGAAAAGCAGTGGATTGGGAGTCATACTGCTGGGTTTTAAGTCTTGCCTCTGCCCTTAGCTGTATAACTCTAGGTAAATCATTTGCCTTTTCTTTAGTTTCCTCCACTATAAAATGAGACCGTTGCCTTACAGTTCCTCTAAGGTGTTTTGAAAGACATTACAATCAGTGGAAAAGAAGAGCAAACTAACTCTAGTCCATGAGTTCCACACTTTTATGTGCATCAGACACAGAGACGCTTATTAAAACAGATGCCTAGGGCCCAGCACAGTGGCTAACAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACCATCCTGGGCAACATAGTGAAACCCCATCTCTACCAAAGATACAAAAATTAGCCAGGTGTGGTGCACCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGATGTAGAGGTTACAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGATGCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGATGCAGATGTCTAGACTCTTTCCCCCAGAGGCTTATTTTTTAATTTATGAGACAGGGTCTTGCTCTGACACCCAGGCTGGAGGGCAGTGGTGCGATCTTGGCACATTGCACCCTCCACCTCCTGCACTCATGGGATTCTCCTACCCCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCGCCACACCCAGCTAATGTTTTTTCTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGTCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACCTGCCTCCGCCTCCCAAAGTGCTGTGATTACAGGCATGAGTCACTGCGCCCAGCCTCCCCAAAGGTTTTTATTAAGTCAGTGAAGCATGGTAATCTGGCACTGGCACTGTTCCCATGCTCAGTTCAGCAGCACATACCCCAAAAAATTGGAATGATACAGAGATTTGCATGGCGCCTGTGCAAGGATAACACGCAAATTCATGAAGCATGCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGATGGAGTGCATTGGCTTGACTTCGGCTCACTGCAAGCTCCCCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACAACAAGTGTGCACCACCATGCCCGGCTAACTTTTTTGTATTTTTAGTAGAGACCGTGTTTCGCCGTGTTAGACAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTTCTGAGATTATAGGCGTGAGCCGCTGCACCCAGCCGAAGCATGCCATTATTTTTTTAAGAAAGAAAAAAAAATAAAGAAAAAAATCTGTTCCCTTGATGATCGTGATATGCATTAAAATTTGGTAACCACTGCTTTCGTCCCTCTATTCATTATACTAGCTCTCTTTCCTCAATATTTATCTCCCTTCACCTCCTACTTGTGACCCAAATCTTCTAACTCTTCTATCTCTTGCTTCCCCCACCTCTCATCCAACTCTCCATTCTCTTTGTGTCCTACATCACACCCAAATAGCTTCCTCATGGCCAACCCCAGTTGGCTCTCCATCCCTAACCTGTTTTGCTTTGCCCATGGCTGCCCGCAGTTCCTCAGGCCCAAGTCCTGGGTCTCCTGCAAATAATGTCAGGCAGTCCTCAAAGTCTGAGAGCTCCATCTCTGCAATCTGGGTTGCAGACCAGGCTGCTGGGAATGTCCCTCGTACATCTGCACAATTTGGCACAGGTTCTGAAGGGGGAAGGCAGGGCCAGGAGGTCAGCGCAGTAATAAAATATGCCCAGAGAGATATCTGTAGATAGAGTGAGTCTTCCAACCTTTGGAGGATAGAGCACTGTGAGAAATAGGGATCAAAGGAGTATTACAGAGTAATATGTATAGGGCTTAGGAGATAATAGAACAAGAAGTGATTGGAGATGCCAAGACTTTTATAGATGGAAGACTGAGGATGTTATTCAGAGATTTAATGGTAGCACTGAATTTGAACCCAGTTCTCCAGCCTCACAATGTCTCCTTCAAAGCTTCTAGGGATCTCCCCAGCAGAGAGCTCCACACTTAGCCGAGCTAGAGCTGAGTCTAGAGCAGACACGAGAGAGCAGGAAAATGGAAGTTCTGGGCTAAAAGAAAACTTAATAGTTTACAAACTCCCAGAACTACAGAATTCTAGAACTACAAGAGGCTTGAAGATCATCCCTCTAAACTCTTTGCTTTATAAATTAGAAAACCCAGTCCCAGGGAAGAGCACATGTAGAACCCAGACCGTTTGATACTCCCTGTACATCCTGCTGGACATATAAGTATTTGGGTAGTTTCACCTGGAAGATCCTCAGCAGCTGGTCGCACCACCCCTGCTACCAGGGCTGCTTTCTTGGCAGCAAGCTGTGGCTCCCTACACAGCTGTCCAACTCTGCTCTGCTCCCAGCTCTGCTGCTTTTCTAGAAGCCGCTCCAGGGTCTCTGGACCCAAGGCCTCCTGCATGAGAAGGTAGAAGGAGAGTGGGGAGATCTGGACAGATCAGGACCTGCTGCTATAGCTCTAAGTCCAAAGTCCTGTCTCTGTTTTGCAGTCTCCCCCCAGATCTAGGCTTCATATCCTTTGCCCTCTTTGGCCACGGGTCCCCATAACCAGCTCACCAGTCCCCTCTATGCATTTACTCCCTTCCCTTCTTCCTTCATCTCACCCTGGGGATCAAGGAAATTGCCTCAGTAGACAGAGTGAATACTAGGCGTCCAGCTTGCTCTACTTCATCCTGGCTCCACAACTCTGGTTTCCTGGGGACAGGAAGAAAATCGGGGGCTGGGGAGCTGAGGGAACTGTGAGGAAAAGGAAGGGGAAAAGAGGACATGCTAGGATTTCGGACACAGGGCTCCAGGGGACCTTAAGAATATGGAACAGGCTGCCACTGATGATGGTGGCTGAGGGACTGGGTATAGAATGAGTTAGAATCTGAAGTTCTCGAAGGTCCATACCCAAGAACAGACTCCTGCAATAGCAGCCATCCCAGCTCTGTGGCAAATGTCTCTCCTAGGCAGAAGCCTTGCAGCTGACTGAGATGGGACAGCAGGATCTGTAGGGGGATCTGTCGTGTGCTCTCTGTCCCCAGGAATCCAACCAAAGGGCCTAAGGTCTCCAGCACTTCCCCTGAGACTGGAGTCTCCTTTGGAGCCTGGAGAAGAGCATCAGAACTTGGACAATGCACTTCTGACTCAGAATACCAGACACCTTGATCAAGACACCAAGCCCCCTAACCTTCCCTCCCTCCTGCTCCCAGCTCAGCACCCTATGATGCTCACTACCTTTGTTCACTTCCTTAAGCAATGAGCCCAGATAGGAGCAGGCAGAAAGACTGAGAGGTGGACTCCAAGAGATTTCTCGGACTCCAAGAGGTATGGACAAGTAACGTGAAGCATATTATCAAGGAACAGAACCCAGAGGCAAAACAGGGGCCAGGCCTTGTAGACAGGAATCTGTTTGGCAGCAAGAAAGCAAGAAGTAGAGGGTTGGGGGACAGTCAGAGAGCATTGTCTGAGGAGCAAGAATTGCCCAGGGCAGCAAATCTGAGTCTGGTAGGGTGGACTCTTACCAGGTTTTGTAGTGCCCTCTCTGCCAGGGCTGCCTGGTGGAGGGGGGTCAGTGCCAGCAGCTGCTCTGGAGCTCTTTGCACCAGCTCCACCACCAACATAATGGATTCATTGGATAGTCTGTCCATCAACTGGATCCTATTACAGCAATTTGACAACAACAGGATTCAGGTGGAGCTGGGCCAAGTCGAGAAGGGACCACAAAACCCCACAGTCCGCAGCTAAGATGTGACCCCAGACCAAATTTAGTGAAGCTGGACAGGAACTGATAGTAAACAGCTCCAGGGCCAATTCCCACCATCAAGCTTGAGTGGGGGAGAAAAAGGGAGCAACATATTTCTAGTCTTCCTAAAAAAAAAAAATAACGAACAATCCTACCTGATCTAATGGACTCAAAAGCTCCAAATATTAAGTACCATTAACATTTCCCCATTTTATAGATTAAAAAACTGAGGTTCACAGAGATCAAATGTTGAGGTCTCTCACTCCCAATTCCCGTTTTTTTCCACAGGACCACCCTTCCTCTGCTTGTGAAGAGGTCCCTTCTTGTTTGTACGTGCTATACAATTTACAAAGTTCTTTCAGGTGTTATCTCATTTGATCCTACAACAAGACCTGGCCTCACTCCATCACTCAGGCTGGAGCACAGTGGTGCTGCGATCTCAGTTCACTGCAACCCGCACCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAATAGCTGGAATTACACGCACGTGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGTGTTTTGCCATGTTGGCCAGTCTGGTCTTGAACACCTGACCTCCGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTATAGGCATGAGCCACTGCACCCAGACAAAATAGGTGTTTCTCTTATCCTTCTTTCACAAATGAGAAACTCAAGTTTTTTGATGCATGGTCTAGGATCTTTCACCTCATCTGTAACCTTGGGATTCTAAATTATCTCACAGAACCCACATATTTAAACAGATCTGAATGGCATTAAAAAAAAGTAAAAACAGGCCGGACGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAGGGTCAGAAATTCGAGACCACCCTGAGCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATTGCTTGAACCCCAGAGGGAGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAATATAAATAAATAAACAAATAAATAAATAAATCCCTTTTACCCGAAATCAGAGGTGATAACCTGTACCCTACCTAGGATTACCAGTTCTGGAACTGGGCTAAGTCATACAAGAGCTGAAATCTGTGGAAAGGCCTATAAAAATATAAGAATGTTGGGAAGCCGAGGTGGGCAGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAGCTCGTCCCTACAACAAATACAAAAATTAGCCTGGCATGGTGGTGCACACCTACAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGAAGATGGAGGTTGCAGTGAGCCGAGATCACGTCACTGCACTCCAGCCTTGGTGACACAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAGTAGGAATGAAGTCAACTGCTTTTACTCCACTTCAGCTCCATATTCCCCAGGAAGACTGTAACACCAGCATTTTCCTATCCTGACTTACAGTGCGGATGGCAACGGGGTGGTGGTAGGGGTAAAATGAGAAAAGCAGCATATGAGTAACATACTAATAAATTTCTCCATGGGTAGGGAGGAGCCTTGGGTTCCTATAGCCTTTTCTTCCCACAACCTGTATATGAACGTGCTCTACAACATTCCTGCCATGGGGCCATCTGGCTTAGGCTCGAACAGCTCCAAGGACCAGGAACTCACTACCTTAGTTTTTCTTATACTATGTAAAAATCTGATCTCCGTTAACTACTCTTAGTCTTGCCCAATGGGGCCACTCATAAATATGACAATCTAATTTCTACTTGATAGCCCCTCAGGTATTTGAAGGTATTTATCACATTTTTCATATATTTTTCTCTCGATCTACTCCTCTGAATGCACTAAGAACACAGTGCCCTGAGCAAACTACAATCCTCTGGGGCAGATTTGGAGCATTGCCTCCCTCACTTCAGATGCTCTGTCTCAATCTCAATTAATGTGGACTAGGTTATTGTAAGATTACTTGGCAGGCTTCAATACAGTGTTGCCACCCTCAGCTGCCCTGTGCTGGAGCATATTCTGGGAACCAGTCAATACATAGAGCAACTTTGAATAAAATCCTCTGCTTTGGGCTATAAATTATGTCAGGGAACTACCAGACAGAAAAACTACCTCCTCCAGGGCATTCCCTAAGGGCAGATCTTCACCCCAGATTGAGCTTTCTGAGGGGCCAATATCTCTAGCTGCAGTACTTACGGTAAGTCCAGGAGTAGCTTGCTATCCAGCCCGTTCAGTTCTGGCCCTACAGTTGTCCATTCTGGTTCTGGCATTGCCATCCTCCGCTGTAGCTCTGCCCAGATACAGGCCCTCTGTAGGGAAGCAGTGTGAGGCCAGAGCAGAACATAGGAGCTGGGTTCTATACCTAGGGTCCCAGCCTCCCTGCTCCCACTAAAGTCCAGGCACCCCCTCTCACCAGGCTCCCTCGAACTCTAGTGGGCAGCTGATAGATCATGTGCACCACTTCAAGGAAGTCTACCATGGAGTTGATCTGCTGCAGAAACTCACAGGACATGCCTCCTGCCAGGGTGCCCAGAGCCCTGTGGGTGTGTGAGTGGGGAGAGGCTCATTCAACACATACAACAGCCTGTTTGCTCCTTGATATCAGTACTCTCAACACAAGTACAGATGTTCATCCACCGTAATTTATGGTTTGAGAAATGTTTTTACATAGATATCTCATCAGCTCCCCATAACATCACTGCTGTTTATCAGAGGAGAAAATAAGGATTTATGGAAGTCAGGTGACATTCCCAACATCATTCTGCTAGAAATGTGGTAAACTGAAACTAGAGCCATGTCTTAGATTCTGAAGCCCTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAAATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGCACATTCCTGTAATCCCAGCTACTCCAGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCGAAAAAAAAAAAAAAAAAAAGATTCTGAAGCCCATTGTTCTTCTAATGTGGGTGTAAGTAAAGTGATACCTTCTTATTCCTATTTATTCTTGCTTGGCCAGTGCCTCTGAAGTCATCCTGAAGTAAACTAACAGTAGCAAATGACTACTGGGACTTTACAATGGACCAAACACTGTGTTAAATATCTTACATGACCTACCTCATTTAATCTTCACAGTAACTACCTATGAGGCTGGTGCCATTGTAATTCTCATTTAAAGAAGGGAAAACTGACACAGGGACGTTAAATGACTTGCCCAAGAGGACAAGTAGGTGACAGGACTGGAACCTGAATCCAGGTTTTCTGAGTCCTTTGGCTCTAGTCAGGATAGGCATGGCACTGTGGAAGGAAAGGAGGGCAAAGGGAGGTGCTAGGAGAACGTCCACGAGGCAGGGACTATGCATCATTCATCCCTATATCCCCCATTCCATATCACATGGTGCCTGGCACATAGTAAGCACTCAAAAAAATGTTGGTCGAATTCAGCGCACTGCTCAACACAAGTTACTCACT-C	Autosomal recessive nonsyndromic hearing loss 16	Likely pathogenic (Jul 01, 2021)	1185095
15-43599999-A-G	not specified • Autosomal recessive nonsyndromic hearing loss 16	Benign/Likely benign (May 01, 2023)	505196
15-43600011-G-A	Rare genetic deafness • Autosomal recessive nonsyndromic hearing loss 16	Pathogenic/Likely pathogenic (Sep 16, 2023)	165298
15-43600020-C-G	not specified	Likely benign (Nov 24, 2015)	178529
15-43600047-G-A	Inborn genetic diseases	Uncertain significance (Jun 09, 2022)	2360670
15-43600069-AC-CT	not specified	Uncertain significance (Apr 25, 2017)	505743
15-43600074-T-C	Rare genetic deafness • STRC-related disorder	Conflicting classifications of pathogenicity (May 05, 2023)	505381
15-43600197-G-A	Inborn genetic diseases	Uncertain significance (Nov 30, 2021)	2262982
15-43600240-C-T	Inborn genetic diseases	Uncertain significance (Nov 22, 2021)	2396400
15-43600547-A-C		Uncertain significance (Feb 16, 2023)	2578088
15-43600571-C-G	Inborn genetic diseases	Uncertain significance (Dec 01, 2023)	3171614
15-43600608-A-C	not specified	Uncertain significance (Oct 06, 2013)	165300
15-43600609-G-A	Autosomal recessive nonsyndromic hearing loss 16 • STRC-related disorder	Conflicting classifications of pathogenicity (Jan 01, 2024)	417924
15-43600609-GT-AG	not specified • Autosomal recessive nonsyndromic hearing loss 16 • Inborn genetic diseases	Conflicting classifications of pathogenicity (Aug 24, 2023)	165301
15-43600610-T-G	Autosomal recessive nonsyndromic hearing loss 16 • Autosomal recessive nonsyndromic hearing loss 16;Spermatogenic failure 7;Deafness-infertility syndrome	Benign/Likely benign (Jan 01, 2024)	805531
15-43600623-A-G	not specified	Likely benign (Apr 08, 2016)	504929
15-43600624-C-A	not specified • STRC-related disorder	Conflicting classifications of pathogenicity (May 05, 2023)	227972
15-43600639-C-G	Inborn genetic diseases	Uncertain significance (Jan 04, 2024)	3171612
15-43600649-G-C	not specified • Autosomal recessive nonsyndromic hearing loss 16	Benign (May 09, 2017)	178634
15-43600664-G-C	not specified	Benign (Aug 01, 2023)	165299
15-43600682-G-A	not specified • Autosomal recessive nonsyndromic hearing loss 16	Likely benign (Jul 25, 2017)	388811
15-43600695-A-G	not specified • Autosomal recessive nonsyndromic hearing loss 16	Benign (Jul 09, 2018)	178635
15-43600857-C-T	not specified	Likely benign (Jun 10, 2015)	227971
15-43600874-G-A	not specified • Autosomal recessive nonsyndromic hearing loss 16	Benign (May 09, 2017)	177982
15-43600879-C-A	Autosomal recessive nonsyndromic hearing loss 16	Pathogenic (Sep 07, 2020)	499237

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRC	protein_coding	protein_coding	ENST00000450892	29	118863

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.77e-15	0.926	125552	0	196	125748	0.000780

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	374	450	0.832	0.0000234	11026
Missense in Polyphen		135	173.86	0.7765		4818
Synonymous	1.71	151	180	0.838	0.00000845	3952
Loss of Function	2.23	31	47.6	0.651	0.00000273	838

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00170	0.00168
Ashkenazi Jewish	0.00	0.00
East Asian	0.000330	0.000326
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000849	0.000844
Middle Eastern	0.000330	0.000326
South Asian	0.00127	0.00127
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

Function: FUNCTION: Essential to the formation of horizontal top connectors between outer hair cell stereocilia. {ECO:0000250}.;
Disease: DISEASE: Deafness, autosomal recessive, 16 (DFNB16) [MIM:603720]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11687802}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness-infertility syndrome (DIS) [MIM:611102]: Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. {ECO:0000269|PubMed:17098888}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Haploinsufficiency Scores

pHI: 0.144
hipred: Y
hipred_score: 0.523
ghis: 0.422

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.109

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Strc
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype;

Gene ontology

Biological process: cell-matrix adhesion;detection of mechanical stimulus involved in sensory perception of sound;auditory receptor cell stereocilium organization
Cellular component: cell surface;stereocilium tip;kinocilium
Molecular function