Have questions? Visit https://www.reddit.com/r/SNPedia

rs111033244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Pendred Syndrome carrier
(G;G) 5 Pendred Syndrome
ReferenceGRCh38 38.1/141
Chromosome7
Position107690125
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033244
ebirs111033244
HLIrs111033244
Exacrs111033244
Varsomers111033244
Maprs111033244
PheGenIrs111033244
hapmaprs111033244
1000 genomesrs111033244
hgdprs111033244
ensemblrs111033244
gopubmedrs111033244
geneviewrs111033244
scholarrs111033244
googlers111033244
pharmgkbrs111033244
gwascentralrs111033244
openSNPrs111033244
23andMers111033244
23andMe allrs111033244
SNP Nexus

SNPshotrs111033244
SNPdbers111033244
MSV3drs111033244
GWAS Ctlgrs111033244
Max Magnitude5

rs111033244, also known as E384G, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.

OMIM605646
Desc
Variant0008
Relatedalso
OMIM605646
Desc
Variant0026
Relatedalso
ClinVar
Risk rs111033244(G;G)
Alt rs111033244(G;G)
Reference rs111033244(A;A)
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.107330570A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005089.5, RCV000036425.2,


[PMID 183102] [Reaction capabilities and structure of poly(rG) and poly(rG)-poly(rC) in solution by the method of the kinetics of hydrogen ion exchange].


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


[PMID 12788906] Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.


[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.


[PMID 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.


[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.