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Search Results: 2 unique variants retrieved
c.577G>A
p.Glu193Lys (147)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20419
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.579G>A
p.Glu193Glu (147)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20421
Mutation Effect:
Silent
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Polymorphism | Silent) of mutation at Exon 6.