In-Depth Variant Analysis:  c.2127G>A (p.Met709Ile)
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c.2127G>A
p.Met709Ile (Legacy AA No. 681)
Variant Type: 
Point
Domain: 
d5a2
Location: 
Exon 13
Variant Effect: 
Missense
Codon Change: 
2127G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA
Variant Comments & Reference:
NAResidue Information:
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Substitution Analysis:
Structural Implications:
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