Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Lys431ArgfsTer6 (p.K431Rfs*6)
(
ENST00000285021.12 )
XPC p.Lys431ArgfsTer6 (p.K431Rfs*6) ( ENST00000285021.12 ) - Associated Disease
- Xeroderma pigmentosum, group C
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) AND Xeroderma pigmentosum, group C
- ClinVar Allele ID
- 15295
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.1325_1326del
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.713_714del
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.1292_1293del
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.1274_1275del
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.1292_1293del
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.1201_1202del
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1292_1293del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-05-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000280
- ClinVar Disease
- Xeroderma pigmentosum, group C
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8298653
Drugs