Annotation Detail
Information
- Associated Genes
- SGCA
- Associated Variants
-
SGCA p.Arg284Cys (p.R284C)
(
ENST00000344627.10,
ENST00000504073.2,
ENST00000262018.8,
ENST00000682109.1 )
SGCA p.Arg284Cys (p.R284C) ( 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>T (p.Arg284Cys) AND Autosomal recessive limb-girdle muscular dystrophy type 2D
- ClinVar Allele ID
- 24478
- ClinVar RefSeq Alternation Syntax
- NM_001135697.3:c.585-395C>T
- ClinVar RefSeq Alternation Syntax
- NM_000023.4:c.850C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010046
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9585331
Drugs