Annotation Detail
Information
- Associated Genes
- EVC
- Associated Variants
-
EVC p.Arg576Gln (p.R576Q)
(
ENST00000264956.11 )
EVC p.Arg576Gln (p.R576Q) ( ENST00000264956.11 ) - Associated Disease
- Ellis-Van Creveld syndrome
- Source Database
- ClinVar
- Description
- NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) AND Ellis-van Creveld syndrome
- ClinVar Allele ID
- 251543
- ClinVar RefSeq Alternation Syntax
- NM_153717.3:c.1727G>A
- ClinVar RefSeq Alternation Syntax
- NM_001306090.2:c.1727G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000315414
- ClinVar Disease
- Ellis-van Creveld syndrome
- Observed Origin Sample
- germline
Drugs