Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
AMPD1 p.Arg425His (p.R425H)
(
ENST00000520113.7,
ENST00000369538.4 )
AMPD1 p.Arg425His (p.R425H) ( ENST00000369538.4, ENST00000520113.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) AND not provided
- ClinVar Allele ID
- 33312
- ClinVar RefSeq Alternation Syntax
- NM_001172626.2:c.1262G>A
- ClinVar RefSeq Alternation Syntax
- NM_000036.3:c.1274G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2014-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000173624
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs