ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: Hereditary Autosomal Dominant Spastic Paraplegia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119476046
rs119476046
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
CUI: C0751602
Disease:
Hereditary Autosomal Dominant Spastic Paraplegia 		0.010 GeneticVariation BEFREE The R239C mutation was found to co-segregate with the disease in one English ADHSP family confirming a widespread prevalence for this commonly occurring mutation. 14607301 2003