Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC c.622-2A>C
(
ENST00000285021.12 )
XPC c.622-2A>C ( ENST00000285021.12 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.622-2A>C AND not provided
- ClinVar Allele ID
- 187980
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.622-2A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.43-2A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.622-2A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.604-2A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.622-2A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001205980
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs