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  Search Results: 4 unique variants retrieved




  c.1204G>A
p.Gly402Arg (356)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31187
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
11
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1204G>T
p.Gly402* (356)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31187
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
-
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 (Point | Nonsense) of mutation at Exon 8.

Patient Information : Show

  c.1204G>T
p.Gly402* (356)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31187
Mutation Effect:
nonsense
Location:
Exon(8)
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 | nonsense) of mutation at Exon 8.

Patient Information : Show

  c.1205G>A
p.Gly402Glu (356)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31188
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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

Patient Information : Show


Factor IX Variant Database