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rs111033212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Pendred Syndrome (deafness)
(C;T) 3 Carrier of a Pendred syndrome (deafness) mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position107689054
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033212
dbSNP (old)rs111033212
ClinGenrs111033212
ebirs111033212
HLIrs111033212
Exacrs111033212
Gnomadrs111033212
Varsomers111033212
Maprs111033212
PheGenIrs111033212
Biobankrs111033212
1000 genomesrs111033212
hgdprs111033212
ensemblrs111033212
gopubmedrs111033212
geneviewrs111033212
scholarrs111033212
googlers111033212
pharmgkbrs111033212
gwascentralrs111033212
openSNPrs111033212
23andMers111033212
23andMe allrs111033212
SNP Nexus

SNPshotrs111033212
SNPdbers111033212
MSV3drs111033212
GWAS Ctlgrs111033212
GMAF0.0004591
Max Magnitude5

rs111033212, also known as c.1003T>C, p.Phe335Leu or F335L, represents a rare mutation in the SLC26A4 gene on chromosome 7.

Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) to be pathogenic for Pendred Syndrome or a form of deafness, autosomal recessive 4, with enlarged vestibular aqueduct.

OMIM605646
Desc
Variant0031
Relatedalso
ClinVar
Risk rs111033212(A;A) Rs111033212(C;C)
Alt rs111033212(A;A) Rs111033212(C;C)
Reference Rs111033212(T;T)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome not specified
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome not specified
Reversed 0
HGVS NC_000007.13:g.107329499T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005114.4, RCV000036420.3, RCV000483689.1,


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


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


[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.


[PMID 17357124] Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.


[PMID 18285825] A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.