Gene: ATL1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119476050
rs119476050
ATL1
T 0.700 GeneticVariation CLINVAR Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. 23483706

2013
dbSNP: rs864622269
rs864622269
ATL1
T 0.700 GeneticVariation CLINVAR Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. 23483706

2013
dbSNP: rs119476050
rs119476050
ATL1
T 0.700 GeneticVariation CLINVAR Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 20932283

2010
dbSNP: rs864622269
rs864622269
ATL1
T 0.700 GeneticVariation CLINVAR Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 20932283

2010
dbSNP: rs119476050
rs119476050
ATL1
T 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia 3A associated with axonal neuropathy. 17502470

2007
dbSNP: rs864622269
rs864622269
ATL1
T 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia 3A associated with axonal neuropathy. 17502470

2007