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  Search Results: 3 unique variants retrieved




  c.340T>C
p.Ser114Pro (68)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10454
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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Patient Information : Show

  c.340T>G
p.Ser114Ala (68)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10454
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
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.342C>T
p.Ser114Ser (68)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10456
Mutation Effect:
Silent
Location:
Exon(4)
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 4.

Patient Information : Show


Factor IX Variant Database