Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
AMPD1 p.Met310Ile (p.M310I)
(
ENST00000369538.4,
ENST00000520113.7 )
AMPD1 p.Met310Ile (p.M310I) ( ENST00000369538.4, ENST00000520113.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) AND not provided
- ClinVar Allele ID
- 98241
- ClinVar RefSeq Alternation Syntax
- NM_000036.3:c.930G>T
- ClinVar RefSeq Alternation Syntax
- NM_001172626.2:c.918G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-11-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000514310
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs