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  Search Results: 7 unique variants retrieved




  c.1069G>A
p.Gly357Arg (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1069G>T
p.Gly357* (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.

Patient Information : Show

  c.1069G>T
p.Gly357* (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.

Patient Information : Show

  c.1069G>C
p.Gly357Arg (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31052
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.1070G>A
p.Gly357Glu (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31053
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
17
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.1070G>T
p.Gly357Val (311)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31053
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.1070delG
p.Gly357Glufs*11 (311)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31053
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 (Deletion | Frameshift) of mutation at Exon 8.

Patient Information : Show


Factor IX Variant Database