rs60831116
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs60831116(A;A) |
| Make rs60831116(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41586781 |
| Gene | KRT14 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60831116 |
| dbSNP (classic) | rs60831116 |
| ClinGen | rs60831116 |
| ebi | rs60831116 |
| HLI | rs60831116 |
| Exac | rs60831116 |
| Gnomad | rs60831116 |
| Varsome | rs60831116 |
| LitVar | rs60831116 |
| Map | rs60831116 |
| PheGenI | rs60831116 |
| Biobank | rs60831116 |
| 1000 genomes | rs60831116 |
| hgdp | rs60831116 |
| ensembl | rs60831116 |
| geneview | rs60831116 |
| scholar | rs60831116 |
| rs60831116 | |
| pharmgkb | rs60831116 |
| gwascentral | rs60831116 |
| openSNP | rs60831116 |
| 23andMe | rs60831116 |
| SNPshot | rs60831116 |
| SNPdbe | rs60831116 |
| MSV3d | rs60831116 |
| GWAS Ctlg | rs60831116 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs60831116(A;A) rs60831116(T;T) |
| Alt | rs60831116(A;A) rs60831116(T;T) |
| Reference | Rs60831116(C;C) |
| Significance | Pathogenic |
| Disease | Dermatopathia pigmentosa reticularis not provided |
| Variation | info |
| Gene | KRT14 |
| CLNDBN | Dermatopathia pigmentosa reticularis not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39743033G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015731.26, RCV000056744.1, |
DERMATOPATHIA PIGMENTOSA RETICULARIS
Studying a family from the United States with the diagnosis of dermatopathia pigmentosa reticularis (DPR; 125595), first reported by Heimer et al. (1992), Lugassy et al. (2006) demonstrated a heterozygous C-to-A transversion at cDNA position 54 of KRT14, resulting in the nonsense mutation cys 18 to ter (C18X).
