In Depth Variant Analysis: c.479A>G (p.Gln160Arg)
c.479A>G
p.Gln160Arg (Legacy AA No. 100)
Mutation Type:
Point
Domain:
EGF2
Codon Change:
CAG > CGG
Mutation Effect:
Missense
Location:
Exon(6)
No of bases:
1
No. of patients reported:
34
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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