Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Arg315His (p.R315H)
(
ENST00000544573.5,
ENST00000206765.11 )
TGM1 p.Arg315His (p.R315H) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- autosomal recessive congenital ichthyosis 1
- Source Database
- ClinVar
- Description
- NM_000359.3(TGM1):c.944G>A (p.Arg315His) AND Autosomal recessive congenital ichthyosis 1
- ClinVar Allele ID
- 48129
- ClinVar RefSeq Alternation Syntax
- NM_000359.3:c.944G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032728
- ClinVar Disease
- Autosomal recessive congenital ichthyosis 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 16968736
- Pubmed
- 19212342
Drugs