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  Search Results: 4 unique variants retrieved




  c.956T>A
p.Leu319Gln (273)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30939
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.956T>C
p.Leu319Pro (273)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30939
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.956T>G
p.Leu319Arg (273)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30939
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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.956_958delinsAGA
p.Leu319_Glu320delinsGlnLys (273)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
30939
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
3

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Inframe) of mutation at Exon 8.

Patient Information : Show


Factor IX Variant Database