Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Arg389His (p.R389H)
(
ENST00000544573.5,
ENST00000206765.11 )
TGM1 p.Arg389His (p.R389H) ( ENST00000206765.11, ENST00000544573.5 ) - Source Database
- ClinVar
- Description
- NM_000359.3(TGM1):c.1166G>A (p.Arg389His) AND Abnormality of the skin
- ClinVar Allele ID
- 27528
- ClinVar RefSeq Alternation Syntax
- NM_000359.3:c.1166G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813979
- Observed Origin Sample
- germline
Drugs