Annotation Detail
Information
- Associated Genes
- SPG7
- Associated Variants
-
SPG7 p.Ala510Val (p.A510V)
(
ENST00000644781.1,
ENST00000645818.2,
ENST00000645897.1,
ENST00000646716.1,
ENST00000647079.1,
ENST00000643649.1,
ENST00000646303.1,
ENST00000268704.7,
ENST00000645063.1 )
SPG7 p.Ala510Val (p.A510V) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 ) - Associated Disease
- Spastic paraplegia
- Source Database
- DisGeNET
- Description
- SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
- Pubmed
- 22571692
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2013
Drugs