Annotation Detail
Information
- Associated Genes
- XPC TMEM43
- Associated Variants
-
XPC p.Gln939Lys (p.Q939K)
(
ENST00000285021.12 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 ) - Associated Disease
- arrhythmogenic right ventricular cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 187973
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.2797C>A
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.2815C>A
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.2563C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.2236C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.2569C>A
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.2687C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.2809C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000331098
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs