Details for Combination OLI1148

VARIANTS SPG7:c.1529C>T, p.Ala510Val in Heterozygous form; SPAST:c.1212_1216del, p.Asn405LysfsTer36 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
202

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


Found any issues with the data on this page? Report this entry.