Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
AMPD1 p.Lys287Ile (p.K287I)
(
ENST00000520113.7,
ENST00000369538.4 )
AMPD1 p.Lys287Ile (p.K287I) ( ENST00000369538.4, ENST00000520113.7 ) - Associated Disease
- Muscle AMP deaminase deficiency Hypercholesterolemia, autosomal dominant, type B
- Source Database
- ClinVar
- Description
- NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) AND multiple conditions
- ClinVar Allele ID
- 98249
- ClinVar RefSeq Alternation Syntax
- NM_001172626.2:c.848A>T
- ClinVar RefSeq Alternation Syntax
- NM_000036.3:c.860A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-12-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002464104
- ClinVar Disease
- Muscle AMP deaminase deficiency
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, type B
- Observed Origin Sample
- germline
Drugs