In Depth Variant Analysis: c.178C>G (p.Arg60Gly)
c.178C>G
p.Arg60Gly (Legacy AA No. -1)
Mutation Type:
Point
Domain:
Propeptide
Codon Change:
GGC > CGC
Mutation Effect:
Missense
Location:
Exon(3)
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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