rs80338848

plus

Geno	Mag	Summary
(C;C)	5	Pendred Syndrome
(C;T)	4	Pendred syndrome carrier
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

107675051

Gene

SLC26A4

is a	snp
is	mentioned by
dbSNP	rs80338848
dbSNP (classic)	rs80338848
ClinGen	rs80338848
ebi	rs80338848
HLI	rs80338848
Exac	rs80338848
Gnomad	rs80338848
Varsome	rs80338848
LitVar	rs80338848
Map	rs80338848
PheGenI	rs80338848
Biobank	rs80338848
1000 genomes	rs80338848
hgdp	rs80338848
ensembl	rs80338848
geneview	rs80338848
scholar	rs80338848
google	rs80338848
pharmgkb	rs80338848
gwascentral	rs80338848
openSNP	rs80338848
23andMe	rs80338848
SNPshot	rs80338848
SNPdbe	rs80338848
MSV3d	rs80338848
GWAS Ctlg	rs80338848

Max Magnitude

5

rs80338848, also known as L236P, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.

OMIM	605646
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs80338848(C;C)
Alt	Rs80338848(C;C)
Reference	Rs80338848(T;T)
Significance	Pathogenic
Disease	Pendred's syndrome Enlarged vestibular aqueduct syndrome
Variation	info
Gene	SLC26A4
CLNDBN	Pendred's syndrome Enlarged vestibular aqueduct syndrome
Reversed	0
HGVS	NC_000007.13:g.107315496T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005086.5, RCV000036505.2, RCV000269713.1,

[PMID 9618166] Two frequent missense mutations in Pendred syndrome.

[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.

[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

[PMID 18310264] Heterogeneity in the processing defect of SLC26A4 mutants.

[PMID 10700480] Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

[PMID 15689455 ] SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.