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rs28939086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 carrier of a Pendred Syndrome allele
(C;C) 5 Pendred Syndrome
ReferenceGRCh38 38.1/141
Chromosome7
Position107690220
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs28939086
ebirs28939086
HLIrs28939086
Exacrs28939086
Varsomers28939086
Maprs28939086
PheGenIrs28939086
hapmaprs28939086
1000 genomesrs28939086
hgdprs28939086
ensemblrs28939086
gopubmedrs28939086
geneviewrs28939086
scholarrs28939086
googlers28939086
pharmgkbrs28939086
gwascentralrs28939086
openSNPrs28939086
23andMers28939086
23andMe allrs28939086
SNP Nexus

SNPshotrs28939086
SNPdbers28939086
MSV3drs28939086
GWAS Ctlgrs28939086
Max Magnitude5

rs28939086, also known as T416P, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.

OMIM605646
DescPENDRED SYNDROME
Variant0006
Relatedalso
ClinVar
Risk rs28939086(C;C)
Alt rs28939086(C;C)
Reference rs28939086(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.107330665A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005087.3, RCV000036432.3,


[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 15531480] Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.


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