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rs121908378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 speech and other processing issues
Make rs121908378(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position114642616
GeneFOXP2
is asnp
is mentioned by
dbSNPrs121908378
ebirs121908378
HLIrs121908378
Exacrs121908378
Varsomers121908378
Maprs121908378
PheGenIrs121908378
hapmaprs121908378
1000 genomesrs121908378
hgdprs121908378
ensemblrs121908378
gopubmedrs121908378
geneviewrs121908378
scholarrs121908378
googlers121908378
pharmgkbrs121908378
gwascentralrs121908378
openSNPrs121908378
23andMers121908378
23andMe allrs121908378
SNP Nexus

SNPshotrs121908378
SNPdbers121908378
MSV3drs121908378
GWAS Ctlgrs121908378
Max Magnitude3

rs121908378, also known as Arg328Ter or R328X, is a C-to-T transition in exon 7 of the FOXP2 gene.

As a dominant mutation, rs121908378(T) has been linked to developmental verbal dyspraxia.[PMID 15877281OA-icon.png] The associated disorder is known as Speech-language disorder-1 or SPCH1.

OMIM605317
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908378(T;T)
Alt rs121908378(T;T)
Reference rs121908378(C;C)
Significance Pathogenic
Disease Speech-language disorder 1
Variation info
Gene FOXP2
CLNDBN Speech-language disorder 1
Reversed 0
HGVS NC_000007.13:g.114282671C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005372.3,