Annotation Detail
Information
- Associated Genes
- VPS13C
- Associated Variants
-
VPS13C p.Arg3652Ter (p.R3652*)
(
ENST00000644861.2,
ENST00000249837.7 )
VPS13C p.Arg3652Ter (p.R3652*) ( ENST00000249837.7, ENST00000644861.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND not provided
- ClinVar Allele ID
- 858707
- ClinVar RefSeq Alternation Syntax
- NM_020821.3:c.10954C>T
- ClinVar RefSeq Alternation Syntax
- NM_017684.5:c.10825C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-02
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002223989
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs