Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Ala499Val (p.A499V)
(
ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 ) - Associated Disease
- xeroderma pigmentosum group A
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.1496C>T (p.Ala499Val) AND Xeroderma pigmentosum group A
- ClinVar Allele ID
- 139224
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1496C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.1496C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.917C>T
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.1405C>T
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.1496C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.1478C>T
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.1529C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003315793
- ClinVar Disease
- Xeroderma pigmentosum group A
- Observed Origin Sample
- germline
Drugs