CATVariant
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KMT2C (Q8NEZ4)
E5Q (p.Glu5Gln) variant
E5Q (p.Glu5Gln) variant of KMT2C (Q8NEZ4)
E5Q (p.Glu5Gln) in KMT2C (Q8NEZ4) is a missense change.
E5Q (p.Glu5Gln) variant details
p.Glu5Gln
TOPMed rs1002542913
Missense
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