Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Arg315Leu (p.R315L)
(
ENST00000544573.5,
ENST00000206765.11 )
TGM1 p.Arg315Leu (p.R315L) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- autosomal recessive congenital ichthyosis 1
- Source Database
- ClinVar
- Description
- NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) AND Autosomal recessive congenital ichthyosis 1
- ClinVar Allele ID
- 48130
- ClinVar RefSeq Alternation Syntax
- NM_000359.3:c.944G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-07-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032729
- ClinVar Disease
- Autosomal recessive congenital ichthyosis 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 16280294
- Pubmed
- 19863506
- Pubmed
- 10232404
- Pubmed
- 16977323
Drugs