rs121908377
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | speech and other processing issues |
| (G;G) | 0 | common in clinvar |
| Make rs121908377(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 114662075 |
| Gene | FOXP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908377 |
| dbSNP (classic) | rs121908377 |
| ClinGen | rs121908377 |
| ebi | rs121908377 |
| HLI | rs121908377 |
| Exac | rs121908377 |
| Gnomad | rs121908377 |
| Varsome | rs121908377 |
| LitVar | rs121908377 |
| Map | rs121908377 |
| PheGenI | rs121908377 |
| Biobank | rs121908377 |
| 1000 genomes | rs121908377 |
| hgdp | rs121908377 |
| ensembl | rs121908377 |
| geneview | rs121908377 |
| scholar | rs121908377 |
| rs121908377 | |
| pharmgkb | rs121908377 |
| gwascentral | rs121908377 |
| openSNP | rs121908377 |
| 23andMe | rs121908377 |
| SNPshot | rs121908377 |
| SNPdbe | rs121908377 |
| MSV3d | rs121908377 |
| GWAS Ctlg | rs121908377 |
| Max Magnitude | 3 |
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.
| 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, |
