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rs80338848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Pendred Syndrome
(C;T) 4 Pendred syndrome carrier
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position107675051
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs80338848
ebirs80338848
HLIrs80338848
Exacrs80338848
Varsomers80338848
Maprs80338848
PheGenIrs80338848
hapmaprs80338848
1000 genomesrs80338848
hgdprs80338848
ensemblrs80338848
gopubmedrs80338848
geneviewrs80338848
scholarrs80338848
googlers80338848
pharmgkbrs80338848
gwascentralrs80338848
openSNPrs80338848
23andMers80338848
23andMe allrs80338848
SNP Nexus

SNPshotrs80338848
SNPdbers80338848
MSV3drs80338848
GWAS Ctlgrs80338848
Max Magnitude5

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

OMIM605646
Desc
Variant0005
Relatedalso
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
CLNACC RCV000005086.3, RCV000036505.2,


[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 15689455OA-icon.png] 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.