Annotation Detail
Information
- Associated Genes
- SGCA
- Associated Variants
-
SGCA p.Arg284Gly (p.R284G)
(
ENST00000504073.2,
ENST00000262018.8,
ENST00000682109.1,
ENST00000344627.10 )
SGCA p.Arg284Gly (p.R284G) ( ENST00000262018.8, ENST00000344627.10, ENST00000504073.2, ENST00000682109.1 ) - Associated Disease
- autosomal recessive limb-girdle muscular dystrophy type 2D
- Source Database
- ClinVar
- Description
- NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) AND Autosomal recessive limb-girdle muscular dystrophy type 2D
- ClinVar Allele ID
- 958184
- ClinVar RefSeq Alternation Syntax
- NM_001135697.3:c.585-395C>G
- ClinVar RefSeq Alternation Syntax
- NM_000023.4:c.850C>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-11-07
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001248461
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Observed Origin Sample
- germline
Drugs