Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Val518Met (p.V518M)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Val518Met (p.V518M) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000359.3(TGM1):c.1552G>A (p.Val518Met) AND not specified
- ClinVar Allele ID
- 27535
- ClinVar RefSeq Alternation Syntax
- NM_000359.3:c.1552G>A
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2021-12-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000246360
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs