Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Tyr559Ter (p.Y559*)
(
ENST00000285021.12 )
XPC p.Tyr559Ter (p.Y559*) ( ENST00000285021.12 ) - Associated Disease
- Xeroderma pigmentosum, group C
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter) AND Xeroderma pigmentosum, group C
- ClinVar Allele ID
- 923066
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.1659C>G
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.1677C>G
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.1586C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.1098C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1626+51C>G
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.1710C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.1677C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001828707
- ClinVar Disease
- Xeroderma pigmentosum, group C
- Observed Origin Sample
- inherited
- Observed Origin Sample
- unknown
Drugs