Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 p.Glu487Lys (p.E487K)
(
ENST00000309680.4 )
KRT2 p.Glu487Lys (p.E487K) ( ENST00000309680.4 ) - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- ClinVar
- Description
- NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) AND Ichthyosis bullosa of Siemens
- ClinVar Allele ID
- 24349
- ClinVar RefSeq Alternation Syntax
- NM_000423.3:c.1459G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009894
- ClinVar Disease
- Ichthyosis bullosa of Siemens
- Observed Origin Sample
- germline
- Pubmed
- 7524919
- Pubmed
- 10233323
- Pubmed
- 8077693
- Pubmed
- 7521371
- Pubmed
- 2004005
Drugs