Data Export Options:


UNIQUE (Without Patient Data) :
MULTIPLE (With Patient Data) :

  Search Results: 8 unique variants retrieved




  c.799C>T
p.His267Tyr (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30114
Mutation Effect:
Missense
Location:
Exon(7)
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

  c.799delC
p.His267Thrfs*30 (221)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30114
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 7.

Patient Information : Show

  c.800A>G
p.His267Arg (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30115
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.800A>C
p.His267Pro (221)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30115
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.800A>T
p.His267Leu (221)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30115
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.801C>A
p.His267Gln (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30116
Mutation Effect:
Missense
Location:
Exon(7)
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.801C>G
p.His267Gln (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30116
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.801C>G
p.His267Gln (221)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30116
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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

Patient Information : Show


Factor IX Variant Database