Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Pro334His (p.P334H)
(
ENST00000285021.12 )
XPC p.Pro334His (p.P334H) ( ENST00000285021.12 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.1001C>A (p.Pro334His) AND not specified
- ClinVar Allele ID
- 15292
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.910C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.422C>A
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.1001C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.983C>A
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.1034C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.1001C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1001C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-02-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000122346
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs