Annotation Detail
Information
- Associated Genes
- KRT5
- Associated Variants
-
KRT5 p.Pro25Leu (p.P25L)
(
ENST00000252242.9 )
KRT5 p.Pro25Leu (p.P25L) ( ENST00000252242.9 ) - Associated Disease
- KRT5-related disorder
- Source Database
- ClinVar
- Description
- NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) AND KRT5-related disorder
- ClinVar Allele ID
- 29687
- ClinVar RefSeq Alternation Syntax
- NM_000424.4:c.74C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003415710
- ClinVar Disease
- KRT5-related disorder
- Observed Origin Sample
- germline
Drugs