Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Ser160Cys (p.S160C)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Ser160Cys (p.S160C) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- autosomal recessive congenital ichthyosis 1
- Source Database
- ClinVar
- Description
- NM_000359.3(TGM1):c.479C>G (p.Ser160Cys) AND Autosomal recessive congenital ichthyosis 1
- ClinVar Allele ID
- 27521
- ClinVar RefSeq Alternation Syntax
- NM_000359.3:c.479C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013300
- ClinVar Disease
- Autosomal recessive congenital ichthyosis 1
- Observed Origin Sample
- germline
- Pubmed
- 11298529
Drugs