Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
AMPD1 p.Arg388Trp (p.R388W)
(
ENST00000369538.4,
ENST00000520113.7 )
AMPD1 p.Arg388Trp (p.R388W) ( ENST00000369538.4, ENST00000520113.7 ) - Associated Disease
- Muscle AMP deaminase deficiency
- Source Database
- ClinVar
- Description
- NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) AND Muscle AMP deaminase deficiency
- ClinVar Allele ID
- 33311
- ClinVar RefSeq Alternation Syntax
- NM_000036.3:c.1162C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172626.2:c.1150C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-19
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019934
- ClinVar Disease
- Muscle AMP deaminase deficiency
- Observed Origin Sample
- germline
- Pubmed
- 11102975
- Pubmed
- 10996775
Drugs