Annotation Detail
Information
- Associated Genes
- APOA1 APOA1-AS
- Associated Variants
-
APOA1 p.Ala61Thr (p.A61T)
(
ENST00000375323.5,
ENST00000375329.6,
ENST00000236850.5,
ENST00000359492.6,
ENST00000375320.5 )
APOA1 p.Ala61Thr (p.A61T) ( ENST00000236850.5, ENST00000359492.6, ENST00000375320.5, ENST00000375323.5, ENST00000375329.6 ) - Associated Disease
- Hypoalphalipoproteinemia, primary, 2, intermediate
- Source Database
- ClinVar
- Description
- NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND Hypoalphalipoproteinemia, primary, 2, intermediate
- ClinVar Allele ID
- 325168
- ClinVar RefSeq Alternation Syntax
- NM_001318017.2:c.181G>A
- ClinVar RefSeq Alternation Syntax
- NM_000039.3:c.181G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318018.2:c.181G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002259801
- ClinVar Disease
- Hypoalphalipoproteinemia, primary, 2, intermediate
- Observed Origin Sample
- germline
Drugs