Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
AMPD1 c.35-8_35-5delTCTT
(
ENST00000369538.4,
ENST00000520113.7 )
AMPD1 c.35-8_35-5delTCTT ( ENST00000369538.4, ENST00000520113.7 ) - Associated Disease
- Muscle AMP deaminase deficiency
- Source Database
- ClinVar
- Description
- NM_000036.3(AMPD1):c.35-7_35-4del AND Muscle AMP deaminase deficiency
- ClinVar Allele ID
- 98243
- ClinVar RefSeq Alternation Syntax
- NM_001172626.2:c.23-7_23-4del
- ClinVar RefSeq Alternation Syntax
- NM_000036.3:c.35-7_35-4del
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001078885
- ClinVar Disease
- Muscle AMP deaminase deficiency
- Observed Origin Sample
- germline
Drugs