Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 p.Asn186Lys (p.N186K)
(
ENST00000309680.4 )
KRT2 p.Asn186Lys (p.N186K) ( ENST00000309680.4 ) - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- ClinVar
- Description
- NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) AND Ichthyosis bullosa of Siemens
- ClinVar Allele ID
- 24355
- ClinVar RefSeq Alternation Syntax
- NM_000423.3:c.558C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009901
- ClinVar Disease
- Ichthyosis bullosa of Siemens
- Observed Origin Sample
- germline
- Pubmed
- 11531804
Drugs