Details for Combination OLI1137

VARIANTS AMH:c.451C>T, p.Pro151Ser in Heterozygous form; CRTAP:c.514C>G, p.Leu172Val in Heterozygous form
GENE COMBINATION AMH; CRTAP
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 277000; 601076
DISEASES Mayer-Rokitansky-Küster-Hauser syndrome
REFERENCES 33469725
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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