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  Search Results: 4 unique variants retrieved




  c.715C>T
p.Pro239Ser (193)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20557
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.716C>G
p.Pro239Arg (193)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20558
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.716C>T
p.Pro239Leu (193)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20558
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.717T>C
p.Pro239Leu (193)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20559
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
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