rs387907240
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | pityriasis rubra pilaris (PRP) |
| (C;T) | 4 | Pityriasis rubra pilaris (PRP) |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 80184030 |
| Gene | CARD14 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387907240 |
| dbSNP (classic) | rs387907240 |
| ClinGen | rs387907240 |
| ebi | rs387907240 |
| HLI | rs387907240 |
| Exac | rs387907240 |
| Gnomad | rs387907240 |
| Varsome | rs387907240 |
| LitVar | rs387907240 |
| Map | rs387907240 |
| PheGenI | rs387907240 |
| Biobank | rs387907240 |
| 1000 genomes | rs387907240 |
| hgdp | rs387907240 |
| ensembl | rs387907240 |
| geneview | rs387907240 |
| scholar | rs387907240 |
| rs387907240 | |
| pharmgkb | rs387907240 |
| gwascentral | rs387907240 |
| openSNP | rs387907240 |
| 23andMe | rs387907240 |
| SNPshot | rs387907240 |
| SNPdbe | rs387907240 |
| MSV3d | rs387907240 |
| GWAS Ctlg | rs387907240 |
| Max Magnitude | 4 |
rs387907240, also known as c.467T>C, p.Leu156Pro and L156P, represents a very rare mutation in the CARD14 gene on chromosome 17.
Found through sequencing of 2 unrelated 3-generation families with autosomal dominant pityriasis rubra pilaris, the rs387907240(C) mutation is considered causative for the condition.[PMID 22703878
]
| ClinVar | |
|---|---|
| Risk | Rs387907240(C;C) |
| Alt | Rs387907240(C;C) |
| Reference | Rs387907240(T;T) |
| Significance | Pathogenic |
| Disease | Pityriasis rubra pilaris |
| Variation | info |
| Gene | CARD14 |
| CLNDBN | Pityriasis rubra pilaris |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78157829T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000029229.2, |
