rs28939086

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	Carrier of a Pendred Syndrome mutation
(C;C)	5	Pendred Syndrome

Reference

GRCh38 38.1/141

Chromosome

7

Position

107690220

Gene

SLC26A4

is a	snp
is	mentioned by
dbSNP	rs28939086
dbSNP (classic)	rs28939086
ClinGen	rs28939086
ebi	rs28939086
HLI	rs28939086
Exac	rs28939086
Gnomad	rs28939086
Varsome	rs28939086
LitVar	rs28939086
Map	rs28939086
PheGenI	rs28939086
Biobank	rs28939086
1000 genomes	rs28939086
hgdp	rs28939086
ensembl	rs28939086
geneview	rs28939086
scholar	rs28939086
google	rs28939086
pharmgkb	rs28939086
gwascentral	rs28939086
openSNP	rs28939086
23andMe	rs28939086
SNPshot	rs28939086
SNPdbe	rs28939086
MSV3d	rs28939086
GWAS Ctlg	rs28939086

Max Magnitude

5

rs28939086, also known as c.1246A>C, p.Thr416Pro or T416P, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.

OMIM	605646
Desc	PENDRED SYNDROME
Variant	0006
Related	also

ClinVar
Risk	Rs28939086(C;C)
Alt	Rs28939086(C;C)
Reference	Rs28939086(A;A)
Significance	Pathogenic
Disease	Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided
Variation	info
Gene	SLC26A4
CLNDBN	Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided
Reversed	0
HGVS	NC_000007.13:g.107330665A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005087.4, RCV000036432.3, RCV000435157.1,

[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 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.