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  Search Results: 4 unique variants retrieved




  c.1189G>C
p.Ala397Pro (351)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31172
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1189G>A
p.Ala397Thr (351)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31172
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1190C>T
p.Ala397Val (351)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31173
Mutation Effect:
Missense
Location:
Exon(8)
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.1191T>C
p.Ala397Ala (351)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31174
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