Annotation Detail
Information
- Associated Genes
- XPC LOC129936244
- Associated Variants
-
XPC p.? (p.?)
(
ENST00000285021.12 )
XPC p.? (p.?) ( ENST00000285021.12 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.1A>G (p.Met1Val) AND not provided
- ClinVar Allele ID
- 543010
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.-455A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.34A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.34A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001861752
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs