Annotation Detail
Information
- Associated Genes
- ABCA12
- Associated Variants
-
ABCA12 p.Glu1539Lys (p.E1539K)
(
ENST00000272895.12,
ENST00000389661.4 )
ABCA12 p.Glu1539Lys (p.E1539K) ( ENST00000272895.12, ENST00000389661.4 ) - Associated Disease
- autosomal recessive congenital ichthyosis 4A
- Source Database
- ClinVar
- Description
- NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys) AND Autosomal recessive congenital ichthyosis 4A
- ClinVar Allele ID
- 17897
- ClinVar RefSeq Alternation Syntax
- NM_015657.4:c.3661G>A
- ClinVar RefSeq Alternation Syntax
- NM_173076.3:c.4615G>A
- ClinVar RefSeq Alternation Syntax
- NR_103740.2:n.5113G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-09-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002992
- ClinVar Disease
- Autosomal recessive congenital ichthyosis 4A
- Observed Origin Sample
- germline
- Pubmed
- 12915478
Drugs