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  Search Results: 5 unique variants retrieved




  c.1150C>T
p.Arg384* (338)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31133
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
20
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.1151G>T
p.Arg384Leu (338)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31134
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.1151G>C
p.Arg384Pro (338)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31134
Mutation Effect:
Missense
Location:
Exon(8)
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.1151_1155delGATCT
p.Arg384fsHis*7 (338)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31134
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
5

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.1151G>A
p.Arg384Gln (338)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31134
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