Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC c.2251-1G>C
(
ENST00000285021.12 )
XPC c.2251-1G>C ( ENST00000285021.12 ) - Associated Disease
- XPC-related disorder
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.2251-1G>C AND XPC-related disorder
- ClinVar Allele ID
- 187975
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.2245-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.2251-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.1672-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.2233-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.2005-1G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003954993
- ClinVar Disease
- XPC-related disorder
- Observed Origin Sample
- germline
Drugs