Details for Combination OLI1095

VARIANTS TYR:c.649C>T, p.Arg217Trp in Heterozygous form; OCA2:c.1456G>T, p.Asp486Tyr in Heterozygous form
GENE COMBINATION OCA2; TYR
OLIGOGENIC EFFECT Unknown
ETHNICITY Pakistani
OMIM IDS N.A.
DISEASES Oculocutaneous albinism
REFERENCES 33800529
SCORES
FAMmanual
1

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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