Annotation Detail
Information
- Associated Genes
- ANO5
- Associated Variants
-
ANO5 p.His725Ter (p.H725*)
(
ENST00000684663.1,
ENST00000682266.1,
ENST00000683197.1,
ENST00000324559.9,
ENST00000683411.1,
ENST00000682341.1,
ENST00000683437.1 )
ANO5 p.His725Ter (p.H725*) ( 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.2172_2178del (p.Ala724_His725insTer) AND multiple conditions
- ClinVar Allele ID
- 192164
- ClinVar RefSeq Alternation Syntax
- NM_213599.3:c.2172_2178del
- ClinVar RefSeq Alternation Syntax
- NM_001142649.2:c.2169_2175del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-06-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001852151
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2L
- ClinVar Disease
- Gnathodiaphyseal dysplasia
- Observed Origin Sample
- germline
Drugs