Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Arg579Ter (p.R579*)
(
ENST00000285021.12 )
XPC p.Arg579Ter (p.R579*) ( ENST00000285021.12 ) - Associated Disease
- Xeroderma pigmentosum, group C
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) AND Xeroderma pigmentosum, group C
- ClinVar Allele ID
- 15298
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.1735C>T
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.1644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1626+109C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.1156C>T
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.1735C>T
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.1768C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.1717C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000283
- ClinVar Disease
- Xeroderma pigmentosum, group C
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10766188
- Pubmed
- 11511294
Drugs