Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Asn754LysfsTer13 (p.N754Kfs*13)
(
ENST00000285021.12 )
XPC p.Asn754LysfsTer13 (p.N754Kfs*13) ( ENST00000285021.12 ) - Associated Disease
- Xeroderma pigmentosum, group C
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.2262del (p.Asn754fs) AND Xeroderma pigmentosum, group C
- ClinVar Allele ID
- 187974
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.2256del
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.2262del
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.2134del
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.2016del
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.2244del
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.1683del
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.2010del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-01-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000170429
- ClinVar Disease
- Xeroderma pigmentosum, group C
- Observed Origin Sample
- germline
Drugs