Details for Combination OLI1741

VARIANTS IFT172:c.2719G>A, p.Asp907Asn in Heterozygous form; TTC21B:c.2258C>T, p.Pro753Leu in Heterozygous form
GENE COMBINATION IFT172; TTC21B
OLIGOGENIC EFFECT Unknown
ETHNICITY Moroccan
OMIM IDS 615219; 236600
DISEASES Congenital hydrocephalus
REFERENCES 36859317
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


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