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  Search Results: 8 unique variants retrieved




  c.1186T>C
p.Cys396Arg (350)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31169
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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  c.1186T>G 
p.Cys396Gly (350)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31169
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1186T>A
p.Cys396Ser (350)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31169
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1187G>T
p.Cys396Phe (350)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31170
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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  c.1187G>A
p.Cys396Tyr (350)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31170
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
9
No. of bases:
1

Structural Information

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  c.1187G>C
p.Cys396Ser (350)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31170
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1

Structural Information

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  c.1188T>A
p.Cys396* (350)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31171
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.1188T>G
p.Cys396Trp (350)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31171
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


Factor IX Variant Database