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

rs121908377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 speech and other processing issues
(G;G) 0 common in clinvar


Make rs121908377(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position114662075
GeneFOXP2
is asnp
is mentioned by
dbSNPrs121908377
ebirs121908377
HLIrs121908377
Exacrs121908377
Varsomers121908377
Maprs121908377
PheGenIrs121908377
hapmaprs121908377
1000 genomesrs121908377
hgdprs121908377
ensemblrs121908377
gopubmedrs121908377
geneviewrs121908377
scholarrs121908377
googlers121908377
pharmgkbrs121908377
gwascentralrs121908377
openSNPrs121908377
23andMers121908377
23andMe allrs121908377
SNP Nexus

SNPshotrs121908377
SNPdbers121908377
MSV3drs121908377
GWAS Ctlgrs121908377
Max Magnitude3

rs121908377, also known as Arg553His or R553H, is a G-to-A transition in exon 14 of the FOXP2 gene.

As a dominant mutation, rs121908377(G) has been linked to developmental verbal dyspraxia.[PMID 11586359] The associated disorder is known as Speech-language disorder-1 or SPCH1.

OMIM605317
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908377(A;A)
Alt rs121908377(A;A)
Reference rs121908377(G;G)
Significance Pathogenic
Disease Speech-language disorder 1
Variation info
Gene FOXP2
CLNDBN Speech-language disorder 1
Reversed 0
HGVS NC_000007.13:g.114302130G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005371.4,