Annotation Detail
Information
- Associated Genes
- ANO5
- Associated Variants
-
ANO5 p.Arg58Trp (p.R58W)
(
ENST00000683197.1,
ENST00000682266.1,
ENST00000324559.9,
ENST00000683411.1,
ENST00000683437.1,
ENST00000682341.1,
ENST00000684663.1 )
ANO5 p.Arg58Trp (p.R58W) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 ) - Associated Disease
- Miyoshi muscular dystrophy 3
- Source Database
- ClinVar
- Description
- NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) AND Miyoshi muscular dystrophy 3
- ClinVar Allele ID
- 194563
- ClinVar RefSeq Alternation Syntax
- NM_001142649.2:c.169C>T
- ClinVar RefSeq Alternation Syntax
- NM_213599.3:c.172C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-06-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001254062
- ClinVar Disease
- Miyoshi muscular dystrophy 3
- Observed Origin Sample
- inherited
- Observed Origin Sample
- unknown
Drugs