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  Search Results: 4 unique variants retrieved




  c.1191insT
p.Gly398Trp (352)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31174
Mutation Effect:
Frameshift
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 (Insertion | Frameshift) of mutation at Exon 8.

Patient Information : Show

  c.1192G>A
p.Gly398Ser (352)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31175
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.1193G>A
p.Gly398Asp (352)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31176
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.1193G>C
p.Gly398Ala (352)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31176
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