Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1020764190
rs1020764190
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.010 GeneticVariation BEFREE The proband carried a de novo AFG3L2 heterozygous mutation (p.R468C) along with a heterozygous maternally inherited intragenic deletion of SPG7. 30252181 2018