Annotation Detail
Information
- Associated Genes
- KCNJ13
- Associated Variants
-
GIGYF2 c.532+7354G>A, KCNJ13 p.Arg162Trp (p.R162W)
(
ENST00000233826.4,
ENST00000409779.1,
ENST00000410029.1,
ENST00000373563.9,
ENST00000409196.7,
ENST00000409451.7,
ENST00000409480.5,
ENST00000409547.5,
ENST00000629305.2,
ENST00000677591.1,
ENST00000678466.1 )
GIGYF2 c.532+7354G>A, KCNJ13 p.Arg162Trp (p.R162W) ( ENST00000233826.4, ENST00000409779.1, ENST00000410029.1, ENST00000373563.9, ENST00000409196.7, ENST00000409451.7, ENST00000409480.5, ENST00000409547.5, ENST00000629305.2, ENST00000677591.1, ENST00000678466.1 ) - Associated Disease
- snowflake vitreoretinal degeneration
- Source Database
- DisGeNET
- Description
- Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
- Pubmed
- 23977131
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.361357209360401
- Year of publication
- 2013
Drugs