Annotation Detail
Information
- Associated Genes
- KRT16
- Associated Variants
-
KRT16 p.His208= (p.H208=)
(
ENST00000301653.9 )
KRT16 p.His208= (p.H208=) ( ENST00000301653.9 ) - Associated Disease
- Palmoplantar keratoderma, nonepidermolytic, focal 1
- Source Database
- ClinVar
- Description
- NM_005557.4(KRT16):c.624T>C (p.His208=) AND Palmoplantar keratoderma, nonepidermolytic, focal 1
- ClinVar Allele ID
- 1254034
- ClinVar RefSeq Alternation Syntax
- NM_005557.4:c.624T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001730944
- ClinVar Disease
- Palmoplantar keratoderma, nonepidermolytic, focal 1
- Observed Origin Sample
- germline
Drugs