Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 p.Gln181Leu (p.Q181L)
(
ENST00000309680.4 )
KRT2 p.Gln181Leu (p.Q181L) ( ENST00000309680.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000423.3(KRT2):c.542A>T (p.Gln181Leu) AND not provided
- ClinVar Allele ID
- 77091
- ClinVar RefSeq Alternation Syntax
- NM_000423.3:c.542A>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000056536
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs