In Depth Variant Analysis: c.56T>C (p.Leu19Pro)
c.56T>C
p.Leu19Pro (Legacy AA No. -42)
Mutation Type:
Point
Domain:
Signal Peptide
Codon Change:
CTG > CCG
Mutation Effect:
Missense
Location:
Exon(1)
No of bases:
1
No. of patients reported:
2
Patient Information : Show
Residue Information :
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Substitution Analysis :
Structural Implications :
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