Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 p.Asn186Asp (p.N186D)
(
ENST00000309680.4 )
KRT2 p.Asn186Asp (p.N186D) ( ENST00000309680.4 ) - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- ClinVar
- Description
- NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) AND Ichthyosis bullosa of Siemens
- ClinVar Allele ID
- 24354
- ClinVar RefSeq Alternation Syntax
- NM_000423.3:c.556A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009900
- ClinVar Disease
- Ichthyosis bullosa of Siemens
- Observed Origin Sample
- germline
- Pubmed
- 10620137
Drugs