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  Search Results: 6 unique variants retrieved




  c.1144T>C
p.Cys382Arg (336)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31127
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.1144T>G
p.Cys382Gly (336)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31127
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1144_1145delTG
p.Cys382Serfs*10 (336)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31127
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
2

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.1144T>A
p.Cys382Ser (336)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31127
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.1145G>A
p.Cys382Tyr (336)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31128
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
11
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.1146T>A
p.Cys382* (336)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31129
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


Factor IX Variant Database