KIAA1671

KIAA1671

Basic information

Region (hg38): 22:24952716-25197448

Links

ENSG00000197077 ∙ NCBI:85379 ∙ ∙ HGNC:29345 ∙ Uniprot:Q9BY89 ∙ AlphaFold ∙ 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 KIAA1671 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA1671 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				2		2
missense			113	7		120
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	113	9	0

Variants in KIAA1671

This is a list of pathogenic ClinVar variants found in the KIAA1671 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-25028045-G-A		not specified	Uncertain significance (Aug 30, 2022)
22-25028048-C-G		not specified	Uncertain significance (Feb 06, 2023)
22-25028049-C-A		not specified	Uncertain significance (Feb 06, 2023)
22-25028103-A-G		not specified	Uncertain significance (Nov 10, 2022)
22-25028244-C-T		not specified	Uncertain significance (Jul 28, 2021)
22-25028385-C-G		not specified	Uncertain significance (Mar 02, 2023)
22-25028435-C-T		not specified	Uncertain significance (Jul 14, 2021)
22-25028453-A-C		not specified	Uncertain significance (Jun 11, 2021)
22-25028462-G-A		not specified	Likely benign (Aug 10, 2021)
22-25028475-C-A		not specified	Uncertain significance (Dec 06, 2022)
22-25028498-G-T		not specified	Uncertain significance (Aug 12, 2021)
22-25028571-G-A		not specified	Uncertain significance (Oct 26, 2021)
22-25028582-C-T		not specified	Uncertain significance (Oct 20, 2021)
22-25028624-C-G		not specified	Uncertain significance (Jun 10, 2022)
22-25028634-C-G		not specified	Uncertain significance (Dec 13, 2022)
22-25028679-C-T		not specified	Uncertain significance (Mar 02, 2023)
22-25028774-G-C		not specified	Uncertain significance (Jan 11, 2023)
22-25028863-G-A			Likely benign (Jun 01, 2022)
22-25028982-A-G		not specified	Uncertain significance (Jun 08, 2022)
22-25029006-C-T		not specified	Uncertain significance (May 27, 2022)
22-25029120-C-T		not specified	Uncertain significance (Sep 01, 2021)
22-25029150-G-C		not specified	Uncertain significance (May 06, 2022)
22-25029163-A-C		not specified	Uncertain significance (Oct 26, 2021)
22-25029197-G-T		not specified	Uncertain significance (Sep 29, 2022)
22-25029333-G-A		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA1671	protein_coding	protein_coding	ENST00000358431	10	244719

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.824	0.176	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.46	127	182	0.696	0.0000114	11695
Missense in Polyphen		48	78.454	0.61182		3650
Synonymous	1.23	61	74.6	0.818	0.00000498	3815
Loss of Function	3.04	2	14.5	0.138	7.02e-7	721

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

Haploinsufficiency Scores

• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0998

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 2900026A02Rik
• Phenotype: vision/eye phenotype