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  Search Results: 3 unique variants retrieved




  c.368T>C
p.Phe123Ser (77)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10482
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.368T>G
p.Phe123Cys (77)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10482
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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Patient Information : Show

  c.369T>G
p.Phe123Leu (77)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10483
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


Factor IX Variant Database