Annotation Detail
Information
- Associated Genes
- DPAGT1
- Associated Variants
-
DPAGT1 p.Tyr170Cys (p.Y170C)
(
ENST00000409993.6,
ENST00000354202.9,
ENST00000682791.1,
ENST00000639704.1 )
DPAGT1 p.Tyr170Cys (p.Y170C) ( ENST00000354202.9, ENST00000409993.6, ENST00000639704.1, ENST00000682791.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) AND not provided
- ClinVar Allele ID
- 27335
- ClinVar RefSeq Alternation Syntax
- NM_001382.4:c.509A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-01-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001567586
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs