rs869025342
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;G) | 3 | Unaffected carrier of a mutation for infantile hypotonia |
| (G;G) | 9 | Infantile hypotonia with psychomotor retardation |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 14671194 |
| Gene | CCDC174 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869025342 |
| dbSNP (classic) | rs869025342 |
| ClinGen | rs869025342 |
| ebi | rs869025342 |
| HLI | rs869025342 |
| Exac | rs869025342 |
| Gnomad | rs869025342 |
| Varsome | rs869025342 |
| LitVar | rs869025342 |
| Map | rs869025342 |
| PheGenI | rs869025342 |
| Biobank | rs869025342 |
| 1000 genomes | rs869025342 |
| hgdp | rs869025342 |
| ensembl | rs869025342 |
| geneview | rs869025342 |
| scholar | rs869025342 |
| rs869025342 | |
| pharmgkb | rs869025342 |
| gwascentral | rs869025342 |
| openSNP | rs869025342 |
| 23andMe | rs869025342 |
| SNPshot | rs869025342 |
| SNPdbe | rs869025342 |
| MSV3d | rs869025342 |
| GWAS Ctlg | rs869025342 |
| Max Magnitude | 9 |
rs869025342, also known as c.1404A>G, p.Ter468Trp and X468W, is a rare recessive mutation in the CCDC174 gene on chromosome 3 associated with infantile hypotonia with psychomotor retardation.
The (unaffected) carrier frequency in Jewish Ethiopian populations is reported to be 1%, and the mutation appears to be a founder mutation shared with the Israeli Arab Bedouin population.
For more information, see this news article as well as OMIM 616735.0001.
| ClinVar | |
|---|---|
| Risk | Rs869025342(G;G) |
| Alt | Rs869025342(G;G) |
| Reference | Rs869025342(A;A) |
| Significance | Pathogenic |
| Disease | Hypotonia |
| Variation | info |
| Gene | CCDC174 |
| CLNDBN | Hypotonia, infantile, with psychomotor retardation |
| Reversed | 0 |
| HGVS | NC_000003.11:g.14712701A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000207515.1, |
