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Search Results: 2 unique variants retrieved
c.115delA
p.Lys39Lysfs*3 (-8)
Mutation Type:
Deletion
Domain:
Pro-Peptide
Nucleotide number:
6352
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.116A>G
p.Lys39Arg (-7)
Mutation Type:
Polymorphism
Domain:
Pro-Peptide
Nucleotide number:
6353
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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