Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Gly56Ser (p.G56S)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Gly56Ser (p.G56S) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- limb-girdle muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Limb-girdle muscular dystrophy
- ClinVar Allele ID
- 23317
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.166G>A
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.166G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2013-06-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000171805
- ClinVar Disease
- Limb-girdle muscular dystrophy
- Observed Origin Sample
- unknown
Drugs