Data Export Options:


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

  Search Results: 6 unique variants retrieved




  c.1279G>A
p.Gly427Arg (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31262
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.1279delG
p.Gly427Glufs*11 (381)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31262
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
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 8.

Patient Information : Show

  c.1280G>T
p.Gly427Val (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31263
Mutation Effect:
Missense
Location:
Exon(8)
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.1280G>A
p.Gly427Glu (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31263
Mutation Effect:
Missense
Location:
Exon(8)
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.1280G>C
p.Gly427Ala (381)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31263
Mutation Effect:
Missense
Location:
Exon(8)
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.1281A>G
p.Gly427Gly (381)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31264
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