In Depth Variant Analysis: c.66C>T (p.Gly22Gly)
c.66C>T
p.Gly22Gly (Legacy AA No. -38)
Mutation Type:
Point
Domain:
Propeptide
Codon Change:
GGT > GGC
Mutation Effect:
Missense
Location:
Exon(1)
No of bases:
1
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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