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  Search Results: 7 unique variants retrieved




  c.1237G>C
p.Gly413Arg (367)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31220
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1237G>A
p.Gly413Arg (367)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31220
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
13
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1237G>T
p.Gly413* (367)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31220
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
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.1237G>C
p.Gly413Arg (367)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31220
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1238G>A
p.Gly413Glu (367)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31221
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
8
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1238G>C
p.Gly413Ala (367)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31221
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.1238G>T
p.Gly413Val (367)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31221
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


Factor IX Variant Database