In-Depth Variant Analysis:  c.116C>T (p.Thr39Met)
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c.116C>T
p.Thr39Met (Legacy AA No. -2)
Variant Type: 
Point
Domain: 
Pre-pro leader
Location: 
Exon 2
Variant Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
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Allele Number *: 
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Allele Frequency *: 
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Variant Comments & Reference:
Residue Information:
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Substitution Analysis:
Structural Implications:
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