Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2106Cys (p.R2106C)
(
ENST00000370225.4 )
ABCA4 p.Arg2030Gln (p.R2030Q) ( ENST00000370225.4 )
ABCA4 p.Leu2027Phe (p.L2027F) ( ENST00000370225.4 )
ABCA4 p.Gly991Ter (p.G991*) ( ENST00000370225.4 )
ABCA4 p.Gly991Arg (p.G991R) ( ENST00000370225.4 )
ABCA4 p.Arg943Trp (p.R943W) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg943Gly (p.R943G) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg2106Cys (p.R2106C) ( ENST00000370225.4 )
ABCA4 p.Arg2030Gln (p.R2030Q) ( ENST00000370225.4 )
ABCA4 p.Leu2027Phe (p.L2027F) ( ENST00000370225.4 )
ABCA4 p.Gly991Ter (p.G991*) ( ENST00000370225.4 )
ABCA4 p.Gly991Arg (p.G991R) ( ENST00000370225.4 )
ABCA4 p.Arg943Trp (p.R943W) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg943Gly (p.R943G) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22).
- Pubmed
- 11379881
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 2001
Drugs