MLC1, modulator of VRAC current 1, 23209

N. diseases: 87; N. variants: 45
Disease: Spastic Paraplegia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908345
rs121908345
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C0037772
Disease:
Spastic Paraplegia 		0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077 2018