rs74315437

minus

Geno	Mag	Summary
(A;A)	6	Deafness; early-onset (prelingual)
(A;T)	3	Carrier of a deafness mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

21

Position

36461442

Gene	CLDN14, LOC105369301

is a	snp
is	mentioned by
dbSNP	rs74315437
dbSNP (classic)	rs74315437
ClinGen	rs74315437
ebi	rs74315437
HLI	rs74315437
Exac	rs74315437
Gnomad	rs74315437
Varsome	rs74315437
LitVar	rs74315437
Map	rs74315437
PheGenI	rs74315437
Biobank	rs74315437
1000 genomes	rs74315437
hgdp	rs74315437
ensembl	rs74315437
geneview	rs74315437
scholar	rs74315437
google	rs74315437
pharmgkb	rs74315437
gwascentral	rs74315437
openSNP	rs74315437
23andMe	rs74315437
SNPshot	rs74315437
SNPdbe	rs74315437
MSV3d	rs74315437
GWAS Ctlg	rs74315437

Max Magnitude

6

rs74315437, also known as c.254T>A, p.Val85Asp and V85D, represents a variant in the CLDN14 gene on chromosome 21.

Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.

OMIM	605608
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs74315437(A;A)
Alt	Rs74315437(A;A)
Reference	Rs74315437(T;T)
Significance	Pathogenic
Disease	Deafness Perrault Syndrome Hearing impairment
Variation	info
Gene	CLDN14
CLNDBN	Deafness, autosomal recessive 29 Perrault Syndrome Hearing impairment
Reversed	1
HGVS	NC_000021.8:g.37833740A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005124.3, RCV000417144.1, RCV000417186.1,