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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

Please click here to show detailed structural analysis of this mutation.

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.

Patient Information : Show


Factor IX Variant Database