Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Ala1046Asp (p.A1046D)
(
ENST00000374736.8,
ENST00000678995.1 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
ABCA1 p.Ala1046Asp (p.A1046D) ( ENST00000374736.8, ENST00000678995.1 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Hypoalphalipoproteinemia, Familial
- Source Database
- DisGeNET
- Description
- With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA, A1484S-->X1492), a missense mutation (A986D) in a TD family, and a missense mutation (R170C) in aboriginal subjects with FHA.
- Pubmed
- 10938021
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.366243163057847
- Year of publication
- 2000
Drugs