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rs137853825

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.9 possible association with stuttering
(A;G) 2.9 possible association with stuttering
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position101753376
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137853825
ebirs137853825
HLIrs137853825
Exacrs137853825
Varsomers137853825
Maprs137853825
PheGenIrs137853825
hapmaprs137853825
1000 genomesrs137853825
hgdprs137853825
ensemblrs137853825
gopubmedrs137853825
geneviewrs137853825
scholarrs137853825
googlers137853825
pharmgkbrs137853825
gwascentralrs137853825
openSNPrs137853825
23andMers137853825
23andMe allrs137853825
SNP Nexus

SNPshotrs137853825
SNPdbers137853825
MSV3drs137853825
GWAS Ctlgrs137853825
Max Magnitude2.9
rs137853825, also known as c.3598G>A, Glu1200Lys or E1200K, is a variant in the GNPTAB gene on chromosome 12.

The minor (A) allele of rs137853825 was the most common of several mutations in the GNPTAB gene associated with stuttering in a 2010 study. Note that inheritance was neither dominant or recessive; this variant increased the risk of stuttering when present in either one or two copies, consistent with an additive genetic effect. Female homozygotes were apparently less affected. Note that the proportion of stutterers likely to carry a GNPTAB variant is likely to be less than 4%.[PMID 20147709OA-icon.png]

In 2016, 3- to 8-day old mice pups engineered to carry two copies of the Glu1200Lys mutation were observed to have significantly longer pauses in their spontaneous vocalizations than littermates not carrying the mutations, consistent with some features of human stuttering.10.1016/j.cub.2016.02.068


ClinVar
Risk rs137853825(A;A)
Alt rs137853825(A;A)
Reference rs137853825(G;G)
Significance Non-pathogenic
Disease not provided not specified
Variation info
Gene GNPTAB
CLNDBN not provided not specified
Reversed 1
HGVS NC_000012.11:g.102147154C>T
CLNSRC HGMD
CLNACC RCV000058936.1, RCV000082193.4,