Annotation Detail
Information
- Associated Genes
- SPG7
- Associated Variants
-
SPG7 p.? (p.?)
(
ENST00000644781.1,
ENST00000645818.2,
ENST00000645897.1,
ENST00000643307.1,
ENST00000646716.1,
ENST00000647079.1,
ENST00000643649.1,
ENST00000341316.6,
ENST00000645063.1,
ENST00000268704.7,
ENST00000646303.1 )
SPG7 p.Leu78Ter (p.L78*) ( ENST00000645897.1, ENST00000643307.1, ENST00000646716.1, ENST00000644781.1, ENST00000645818.2, ENST00000645063.1, ENST00000268704.7, ENST00000646303.1, ENST00000647079.1, ENST00000341316.6, ENST00000643649.1 )
SPG7 p.Gly349Ser (p.G349S) ( ENST00000643649.1, ENST00000341316.6, ENST00000647079.1, ENST00000646303.1, ENST00000645063.1, ENST00000268704.7, ENST00000645818.2, ENST00000644781.1, ENST00000646716.1, ENST00000643307.1, ENST00000645897.1 )
SPG7 p.Gly349Arg (p.G349R) ( ENST00000643649.1, ENST00000341316.6, ENST00000647079.1, ENST00000645063.1, ENST00000268704.7, ENST00000646303.1, ENST00000645818.2, ENST00000644781.1, ENST00000643307.1, ENST00000646716.1, ENST00000645897.1 )
SPG7 p.Arg470Ter (p.R470*) ( ENST00000643649.1, ENST00000647079.1, ENST00000645063.1, ENST00000268704.7, ENST00000646303.1, ENST00000645818.2, ENST00000644781.1, ENST00000646716.1, ENST00000645897.1 )
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.Lys558Ter (p.K558*) ( ENST00000644781.1, ENST00000645818.2, ENST00000645897.1, ENST00000646716.1, ENST00000647079.1, ENST00000643649.1, ENST00000646303.1, ENST00000645063.1, ENST00000268704.7 )
SPG7 p.Gly577Ser (p.G577S) ( ENST00000646716.1, ENST00000645897.1, ENST00000645818.2, ENST00000644781.1, ENST00000646303.1, ENST00000645063.1, ENST00000268704.7, ENST00000643649.1, ENST00000647079.1 )
SPG7 p.Trp583Cys (p.W583C) ( ENST00000643649.1, ENST00000647079.1, ENST00000646303.1, ENST00000268704.7, ENST00000645063.1, ENST00000645818.2, ENST00000644781.1, ENST00000646716.1, ENST00000645897.1 )
SPG7 p.Ser692Thr (p.S692T) ( ENST00000645897.1, ENST00000646716.1, ENST00000644781.1, ENST00000645818.2, ENST00000645063.1, ENST00000268704.7, ENST00000646303.1, ENST00000647079.1, ENST00000643649.1 )
SPG7 p.? (p.?) ( ENST00000268704.7, ENST00000341316.6, ENST00000643307.1, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Leu78Ter (p.L78*) ( ENST00000268704.7, ENST00000341316.6, ENST00000643307.1, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Gly349Ser (p.G349S) ( ENST00000268704.7, ENST00000341316.6, ENST00000643307.1, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Gly349Arg (p.G349R) ( ENST00000268704.7, ENST00000341316.6, ENST00000643307.1, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Arg470Ter (p.R470*) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Ala510Val (p.A510V) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Lys558Ter (p.K558*) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Gly577Ser (p.G577S) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Trp583Cys (p.W583C) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 p.Ser692Thr (p.S692T) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 )
SPG7 c.861_861+1insT
SPG7 c.861_861+1insT - Associated Disease
- SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- NA
Drugs