Annotation Detail
Information
- Associated Genes
- ANO5
- Associated Variants
-
ANO5 p.Arg758Cys (p.R758C)
(
ENST00000683411.1,
ENST00000682341.1,
ENST00000683437.1,
ENST00000683197.1,
ENST00000682266.1,
ENST00000324559.9,
ENST00000684663.1 )
ANO5 p.Arg758Cys (p.R758C) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 ) - Associated Disease
- gnathodiaphyseal dysplasia autosomal recessive limb-girdle muscular dystrophy type 2L
- Source Database
- ClinVar
- Description
- NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) AND multiple conditions
- ClinVar Allele ID
- 17205
- ClinVar RefSeq Alternation Syntax
- NM_001142649.2:c.2269C>T
- ClinVar RefSeq Alternation Syntax
- NM_213599.3:c.2272C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000811162
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2L
- ClinVar Disease
- Gnathodiaphyseal dysplasia
- Observed Origin Sample
- germline
Drugs