rs121908378
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | speech and other processing issues |
| Make rs121908378(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 114642616 |
| Gene | FOXP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908378 |
| dbSNP (classic) | rs121908378 |
| ClinGen | rs121908378 |
| ebi | rs121908378 |
| HLI | rs121908378 |
| Exac | rs121908378 |
| Gnomad | rs121908378 |
| Varsome | rs121908378 |
| LitVar | rs121908378 |
| Map | rs121908378 |
| PheGenI | rs121908378 |
| Biobank | rs121908378 |
| 1000 genomes | rs121908378 |
| hgdp | rs121908378 |
| ensembl | rs121908378 |
| geneview | rs121908378 |
| scholar | rs121908378 |
| rs121908378 | |
| pharmgkb | rs121908378 |
| gwascentral | rs121908378 |
| openSNP | rs121908378 |
| 23andMe | rs121908378 |
| SNPshot | rs121908378 |
| SNPdbe | rs121908378 |
| MSV3d | rs121908378 |
| GWAS Ctlg | rs121908378 |
| Max Magnitude | 3 |
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 15877281
] The associated disorder is known as Speech-language disorder-1 or SPCH1.
| 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, |
