Annotation Detail
Information
- Associated Genes
- SHOX
- Associated Variants
-
SHOX p.Arg173Cys (p.R173C)
(
ENST00000334060.8,
ENST00000381575.6,
ENST00000381578.6,
ENST00000686671.1 )
SHOX p.Arg173Cys (p.R173C) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 )
SHOX p.Arg173Cys (p.R173C) ( ENST00000334060.8, ENST00000381575.6, ENST00000381578.6, ENST00000686671.1 )
SHOX p.Arg173Cys (p.R173C) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 ) - Associated Disease
- Langer mesomelic dysplasia syndrome
- Source Database
- DisGeNET
- Description
- Functional analysis of a missense mutation R173C (C517T) affecting the identified SHOX-NLS in two families with LWS and LD showed that the mutated SHOX protein is unable to enter the nucleus.
- Pubmed
- 15173321
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.484071628081205
- Year of publication
- 2004
Drugs