Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Tyr559= (p.Y559=)
(
ENST00000285021.12 )
XPC p.Tyr559= (p.Y559=) ( ENST00000285021.12 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.1677C>T (p.Tyr559=) AND not provided
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 1070388
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.1677C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.1659C>T
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.1677C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1626+51C>T
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.1586C>T
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.1710C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.1098C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-11-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001410845
Drugs