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 )
Source Database
ClinVar
Description
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND Cardiovascular phenotype
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
2020-01-23
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002411194
Observed Origin Sample
germline
Drugs