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Search Results: 2 unique variants retrieved
c.637A>T
p.Asn213Tyr (167)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20479
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.639C>A
p.Asn213Lys (167)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20481
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.