Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Thr829Met (p.T829M)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.Arg212Cys (p.R212C) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Thr829Met (p.T829M) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg212Cys (p.R212C) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Autosomal recessive retinitis pigmentosa
- Source Database
- DisGeNET
- Description
- Our results revealed the presence of three novel mutations: c.160T>G (p.C54G), c.2486C>T (p.T829M), and c.973-6C>A; two mutations previously reported, c.634C>T (p.R212C) and c.4253+4C>T, and several polymorphic changes in the ABCA4 gene among Turkish patients affected with Stargardt and arRP.
- Pubmed
- 15108289
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2004
Drugs