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  Search Results: 6 unique variants retrieved




  c.1294G>A
p.Gly432Ser (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31277
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
8
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1294G>A
p.Gly432Ser (386)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31277
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1295G>A
p.Gly432Asp (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31278
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1295G>C
p.Gly432Ala (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31278
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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  c.1295G>T
p.Gly432Val (386)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31278
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.1296T>G
p.Gly432Gly (386)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31279
Mutation Effect:
Silent
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 | Silent) of mutation at Exon 8.

Patient Information : Show


Factor IX Variant Database