Details for Combination OLI1149

VARIANTS SPG7:c.2293G>A, p.Asp765Asn in Heterozygous form; Copy Number Variant deletion on chromosome 2 of the exon5 7 in the gene SPAST in Heterozygous form
GENE COMBINATION SPAST; SPG7
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Hereditary spastic paraplegia
REFERENCES 33598982
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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