Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC c.413-24A>G
(
ENST00000285021.12 )
XPC c.413-24A>G ( ENST00000285021.12 ) - Associated Disease
- Xeroderma pigmentosum, group C
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.413-24A>G AND Xeroderma pigmentosum, group C
- ClinVar Allele ID
- 15300
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.413-24A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.395-24A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.-43-1151A>G
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.413-24A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.413-24A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000285
- ClinVar Disease
- Xeroderma pigmentosum, group C
- Observed Origin Sample
- germline
- Pubmed
- 14662655
Drugs