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  Search Results: 3 unique variants retrieved




  c.1036C>T
p.Leu346Phe (300)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31019
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1037T>C
p.Leu346Pro (300)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31020
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
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.1038C>T
p.Leu346Leu (300)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31021
Mutation Effect:
Silent
Location:
Exon(8)
CpG:
-
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 (Polymorphism | Silent) of mutation at Exon 8.

Patient Information : Show


Factor IX Variant Database