CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367610255
rs367610255
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
CUI: C4310800
Disease:
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.010 GeneticVariation BEFREE The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C > T) mutations in the CAPN1 gene, was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC. 30611022 2019