Annotation Detail
Information
- Associated Genes
- EVC
- Associated Variants
-
EVC p.Arg576Leu (p.R576L)
(
ENST00000264956.11 )
EVC p.Arg576Leu (p.R576L) ( ENST00000264956.11 ) - Associated Disease
- Curry-Hall syndrome Ellis-Van Creveld syndrome
- Source Database
- ClinVar
- Description
- NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) AND multiple conditions
- ClinVar Allele ID
- 1341824
- ClinVar RefSeq Alternation Syntax
- NM_153717.3:c.1727G>T
- ClinVar RefSeq Alternation Syntax
- NM_001306090.2:c.1727G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001897234
- ClinVar Disease
- Curry-Hall syndrome
- ClinVar Disease
- Ellis-van Creveld syndrome
- Observed Origin Sample
- germline
Drugs