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  Search Results: 4 unique variants retrieved




  c.400T>C
p.Cys134Arg (88)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17677
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
11
No. of bases:
1

Structural Information

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Patient Information : Show

  c.401G>C
p.Cys134Ser (88)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17678
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.401G>T
p.Cys134Phe (88)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17678
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.401_407delGTAACAT
p.Cys134Leufs*67 (88)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17678
Mutation Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of patients reported:
4
No. of bases:
7

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 5.

Patient Information : Show


Factor IX Variant Database