RPL36A-HNRNPH2

RPL36A-HNRNPH2 readthrough

Basic information

Region (hg38): X:101391010-101412297

Links

ENSG00000257529 ∙ NCBI:100529097 ∙ ∙ HGNC:48349 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL36A-HNRNPH2 gene.

• Angiokeratoma corporis diffusum (701 variants)
• not provided (383 variants)
• Cardiovascular phenotype (109 variants)
• not specified (88 variants)
• Migalastat response (46 variants)
• Cardiomyopathy (21 variants)
• GLA-related condition (12 variants)
• Hypertrophic cardiomyopathy (9 variants)
• Fabry disease, cardiac variant (7 variants)
• Primary familial hypertrophic cardiomyopathy (6 variants)
• - (3 variants)
• Angiokeratoma corporis diffusum;Hypertrophic cardiomyopathy (3 variants)
• Hypertrophic cardiomyopathy 1 (2 variants)
• Intellectual disability, X-linked, syndromic, Bain type (1 variants)
• Stroke (1 variants)
• Nephrotic syndrome (1 variants)
• Sudden unexplained death (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL36A-HNRNPH2 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					1	1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	238	188	262	175	31	894
Total	238	188	262	175	32

Highest pathogenic variant AF is 0.00000894

Variants in RPL36A-HNRNPH2

This is a list of pathogenic ClinVar variants found in the RPL36A-HNRNPH2 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-101391028-T-A		not specified	Uncertain significance (Jan 30, 2024)
X-101391167-A-G		GLA-related disorder	Likely benign (Apr 04, 2022)
X-101391195-C-T		GLA-related disorder	Likely benign (Oct 31, 2023)
X-101391216-G-A		GLA-related disorder	Likely benign (Apr 03, 2023)
X-101391265-G-A		GLA-related disorder	Likely benign (Nov 09, 2022)
X-101391786-C-T			Benign (Mar 29, 2018)
X-101397534-C-T			Benign (Jun 26, 2018)
X-101397549-C-T			Likely benign (Jul 27, 2018)
X-101397565-G-GC			Benign (Jun 16, 2018)
X-101397655-C-T			Benign (Jun 14, 2018)
X-101397714-T-C		GLA-related disorder	Likely benign (May 18, 2023)
X-101397753-A-C		GLA-related disorder	Likely benign (Jan 27, 2023)
X-101397760-T-C			Likely benign (Aug 15, 2020)
X-101397776-C-T			Benign (Mar 03, 2015)
X-101397801-TAAACATTTTAAA-T			Uncertain significance (Dec 29, 2022)
X-101397809-T-C		Fabry disease	Likely benign (Dec 31, 2022)
X-101397809-TTAAAG-T		Cardiovascular phenotype	Uncertain significance (Sep 01, 2022)
X-101397811-AAAGT-A		Fabry disease	Pathogenic (Jul 01, 2003)
X-101397813-AG-A		Fabry disease	Conflicting classifications of pathogenicity (Jul 15, 2021)
X-101397819-TCTTTTAATGACATCTGCATTGTATTTTCTAGCTGAAGCAAAACAGTGCCTGTGGGATTTATGTGACTTCTTAACCTTGAAGTCCATTCATAGAACCCTAGCTTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCAATCTCCTGCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCCCACACTTCAAAGTTGTCTCCCTGAAAAACCAAGAAAGTGTGGTTGCTTAGCAACTAGTGATAAGTGGCCCTGTTAGTTTGGCATTCATTCTTAATGTCAGAACTATCAAGCACTTGTAGGAAAAATTAAAATGATCCTGTAGCATTATTTTGGAAATAAAGTAATGTTTCTAGCAAGAAGCTTTATTACTGATAGTAACATCAAGAGCAAGGGAAAAAAATAGATTTAGGCCCAAGACAAAGTTGGTATTGGGTATATAAAGCCATCTTAAAATATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGGTCCTGATTGATGGCAATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTCGGAGGTCATTAGACATGAATAAAGGAGCAGCCATGATAGCCCAGAGGGCCATCTGAGTTACTTGCTGATTCCAGCTGAGGCCAAAGTTGCCAATCACTAACTGAGAAAAAGAATGAAATAATTCAAACAAGAGAGGAGGAAACATTCTTAAAGTTACCTAGATGACCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTAGCCTTCTCTTGAGTTTACAGATTGAACGTCTCCATAAGGAGGTCTAAACCCTTATAATGAATTTTCACTGTAAGAAGTTTGCTTCAGAAGTAGGCCATATAACTTGAAATCCCTTAAAGTTAATTTACTTCTATAATCAGAACTAAAATGGTCTTAGTAAAATTAAAAGCTGCAAAATTACATAGGACTCCATCAAGTATTAAGAAAACTTAAATCCCAGGCATATAGTTTGTTAATGGAATAAAAAGTTTGTAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTAGCGCACGCCTATAATCCCAGCTACTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGTGAGACTCTGTCGCAAAAAAAAAGTTTGTAGATAGGCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGAACTGATGATGACATTTATATTTTTTATAACTCTGTTAAGTCTCAGGGTTTTTTTCTTTAAAAAAAAAACTGATATTTACATTTTAATATGATAACTCTAGTGCTGCTTGGAAAATAGATGGGGGTTGAGACAGAGTGGAAGCAGAGAGATCAGGTGGTCCCAGCAGTCTGGTTGAGAGCCGATAGTAGCTTGGAAGGCCAGGGTGCATGTAGTGAAGATGGAAGGAAGTGGGCTGATTCAGGAGATATTTTAGAGATACTGGTGGAAGGACTGTTGATAGACAGGACATGAATGGTGAAATAAAGGGGAAGACACAAGGATGACTTTCCAGGTGATGGTAGCTTAGGCTATAATTACAGCAGTGGGGATGGTGAGAAGTGGTTGGAACCTGGGAGAGATGGTAGGATGATAGTAAGTAACGTTGGACTTTGAAGGAGACCTTGGTTTCCTTTGTTGTCAAGTTCTATCTATCAGTACAGTTCTATTGGATTCTGGGCTCACTATCTCACCTTTTGAAAGGGCCACATATAAAGAGGCCACTCACAGGAGTACACAATGCTTCTGCCAGTCCTATTCAGGGCCAAGGACATGTGCTTATAACCTGTATGAGAAAACAATGGGTAAAATAAGGGAAAGAAATGAATTTCCAGCTGGGGCTATATATATAGTTATTTTATTTTATTTTATTTTAATTTTTTGAGATGGGGTTCAGTCTGTCATCCAGGGTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTTTCCCAGGTTCAAGTGACTCTTCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCAAAGTCAGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTAATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGCCCAGCTGGGGCTGTATATTTTAAGAAGAGGCTACCTGGAAGGTTCATGTTTAAACTAGCAGCAGGGACAGGCAGTTGCTCTGTGCTTAAATTGTGTAAAGTACCTCCCAGACTGCTGGGATTGTTCTGAGGAAGTAGTGCAGAGATGGTGTGTATATTGAGGAAAGGCAGGAATGAAGATGCTTCTTTCTCTGTGACCGATTGACAACCTGGACTCCCCTAAATGATGTTATAGAGAGTTACAATTACTAATTAACTCTTAGAGCCCTCTTGAATTATAAGTGCACAATATTAGCTATGGTTAGGTATGCATGGATTTTACATGAATTAATTAATTAATTAATGAACTGAAAGAGAAGAGATGGGAGCTCTGGCACATGGAGAATAATTATTTCCAGTATTGTGACAGGGTATTTAAAATTCTGAAGATTGGTTCTTTGGCTCAGCTACCATGGCCTCAAAGTTCTTTCCTTTGTGGCTAAATCTCTGGAATGAAACATTACCATCTGCCAAATTTTCCAAACTGTCACAGTAACAACCATCAAATTTTAGCAGATCTACTCCCCAGTCAGCAAAGGTCTGGGCATCAATGTCGTAGTATCCAAAACTCCCAGGGAAGCCTGCGCAGGTTTTATTTCCAACATCTGCATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGTCTGTCCTAGCAAGACCTCTTAGCAAGAATCCTGCTAAGTCAATACTGCCACCATTGATATCTGATCAATTTCCCTCATCCCCCACCCTTCTTGTTTAAGTACATGAAGCTTTAGCAAGAAGCTCCCTACC-T		Fabry disease	Pathogenic (Jun 05, 1990)
X-101397820-CTT-C		Fabry disease	Conflicting classifications of pathogenicity (Oct 28, 2019)
X-101397820-CTTTTAATGACATCTGCATTGTATTTTCTAGCTGAAGCAAAACAGTGCCTGTGGGATTTATGTGACTTCTTAACCTTGAAGTCCATTCATAGAACCCTAGCTTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCAATCTCCTGCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCCCACACTTCAAAGTTGTCTCCCTGAAAAACCAAGAAAGTGTGGTTGCTTAGCAACTAGTGATAAGTGGCCCTGTTAGTTTGGCATTCATTCTTAATGTCAGAACTATCAAGCACTTGTAGGAAAAATTAAAATGATCCTGTAGCATTATTTTGGAAATAAAGTAATGTTTCTAGCAAGAAGCTTTATTACTGATAGTAACATCAAGAGCAAGGGAAAAAAATAGATTTAGGCCCAAGACAAAGTTGGTATTGGGTATATAAAGCCATCTTAAAATATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGGTCCTGATTGATGGCAATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTCGGAGGTCATTAGACATGAATAAAGGAGCAGCCATGATAGCCCAGAGGGCCATCTGAGTTACTTGCTGATTCCAGCTGAGGCCAAAGTTGCCAATCACTAACTGAGAAAAAGAATGAAATAATTCAAACAAGAGAGGAGGAAACATTCTTAAAGTTACCTAGATGACCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTAGCCTTCTCTTGAGTTTACAGATTGAACGTCTCCATAAGGAGGTCTAAACCCTTATAATGAATTTTCACTGTAAGAAGTTTGCTTCAGAAGTAGGCCATATAACTTGAAATCCCTTAAAGTTAATTTACTTCTATAATCAGAACTAAAATGGTCTTAGTAAAATTAAAAGCTGCAAAATTACATAGGACTCCATCAAGTATTAAGAAAACTTAAATCCCAGGCATATAGTTTGTTAATGGAATAAAAAGTTTGTAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTAGCGCACGCCTATAATCCCAGCTACTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGTGAGACTCTGTCGCAAAAAAAAAGTTTGTAGATAGGCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGAACTGATGATGACATTTATATTTTTTATAACTCTGTTAAGTCTCAGGGTTTTTTTCTTTAAAAAAAAAACTGATATTTACATTTTAATATGATAACTCTAGTGCTGCTTGGAAAATAGATGGGGGTTGAGACAGAGTGGAAGCAGAGAGATCAGGTGGTCCCAGCAGTCTGGTTGAGAGCCGATAGTAGCTTGGAAGGCCAGGGTGCATGTAGTGAAGATGGAAGGAAGTGGGCTGATTCAGGAGATATTTTAGAGATACTGGTGGAAGGACTGTTGATAGACAGGACATGAATGGTGAAATAAAGGGGAAGACACAAGGATGACTTTCCAGGTGATGGTAGCTTAGGCTATAATTACAGCAGTGGGGATGGTGAGAAGTGGTTGGAACCTGGGAGAGATGGTAGGATGATAGTAAGTAACGTTGGACTTTGAAGGAGACCTTGGTTTCCTTTGTTGTCAAGTTCTATCTATCAGTACAGTTCTATTGGATTCTGGGCTCACTATCTCACCTTTTGAAAGGGCCACATATAAAGAGGCCACTCACAGGAGTACACAATGCTTCTGCCAGTCCTATTCAGGGCCAAGGACATGTGCTTATAACCTGTATGAGAAAACAATGGGTAAAATAAGGGAAAGAAATGAATTTCCAGCTGGGGCTATATATATAGTTATTTTATTTTATTTTATTTTAATTTTTTGAGATGGGGTTCAGTCTGTCATCCAGGGTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTTTCCCAGGTTCAAGTGACTCTTCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCAAAGTCAGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTAATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGCCCAGCTGGGGCTGTATATTTTAAGAAGAGGCTACCTGGAAGGTTCATGTTTAAACTAGCAGCAGGGACAGGCAGTTGCTCTGTGCTTAAATTGTGTAAAGTACCTCCCAGACTGCTGGGATTGTTCTGAGGAAGTAGTGCAGAGATGGTGTGTATATTGAGGAAAGGCAGGAATGAAGATGCTTCTTTCTCTGTGACCGATTGACAACCTGGACTCCCCTAAATGATGTTATAGAGAGTTACAATTACTAATTAACTCTTAGAGCCCTCTTGAATTATAAGTGCACAATATTAGCTATGGTTAGGTATGCATGGATTTTACATGAATTAATTAATTAATTAATGAACTGAAAGAGAAGAGATGGGAGCTCTGGCACATGGAGAATAATTATTTCCAGTATTGTGACAGGGTATTTAAAATTCTGAAGATTGGTTCTTTGGCTCAGCTACCATGGCCTCAAAGTTCTTTCCTTTGTGGCTAAATCTCTGGAATGAAACATTACCATCTGCCAAATTTTCCAAACTGTCACAGTAACAACCATCAAATTTTAGCAGATCTACTCCCCAGTCAGCAAAGGTCTGGGCATCAATGTCGTAGTATCCAAAACTCCCAGGGAAGCCTGCGCAGGTTTTATTTCCAACATCTGCATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGTCTGTCCTAGCAAGACCTCTTAGCAAGAATCCTGCTAAGTCAATACTGCCACCATTGATATCTGATCAATTTCCCTCATCCCCCACCCTTCTTGTTTAAGTACATGAAGCTTTAGCAAGAAGCTCCCTACCCT-C		Fabry disease	Pathogenic (Sep 16, 2020)
X-101397828-G-C		Fabry disease	Uncertain significance (Jan 03, 2022)
X-101397830-C-T		Fabry disease	Uncertain significance (Jan 03, 2022)
X-101397833-C-T		Fabry disease	Likely benign (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL36A-HNRNPH2	protein_coding	protein_coding	ENST00000409170	5	21287

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.364	0.590	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.951	28	46.2	0.606	0.00000322	842
Missense in Polyphen		0	2.9267	0		96
Synonymous	-0.579	20	17.0	1.18	0.00000118	229
Loss of Function	1.57	1	4.67	0.214	2.94e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

• ghis: 0.414

Gene ontology

• Biological process: translation
• Cellular component: endoplasmic reticulum;cytosol;plasma membrane;cytosolic large ribosomal subunit
• Molecular function: structural constituent of ribosome