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  Search Results: 5 unique variants retrieved




  c.1147C>A
p.Leu383Ile (337)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31130
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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  c.1147C>T
p.Leu383Phe (337)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31130
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
38
No. of bases:
1

Structural Information

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  c.1147C>G
p.Leu383Val (337)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31130
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1148T>C
p.Leu383Pro (337)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31131
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1148T>A
p.Leu383His (337)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31131
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
4
No. of bases:
1

Structural Information

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Patient Information : Show


Factor IX Variant Database