CATVariant
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SHANK2 (Q9UPX8)
E11D (p.Glu11Asp) variant
E11D (p.Glu11Asp) variant of SHANK2 (Q9UPX8)
E11D (p.Glu11Asp) in SHANK2 (Q9UPX8) is a missense change.
E11D (p.Glu11Asp) variant details
p.Glu11Asp
cosmic curated COSV58346
Missense
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