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  Search Results: 6 unique variants retrieved




  c.1183T>A
p.Phe395Ile (349)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31166
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.1183T>C
p.Phe395Leu (349)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31166
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1183T>G
p.Phe395Val (349)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31166
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.1183delT
p.Phe395Serfs*31 (349)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31166
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 8.

Patient Information : Show

  c.1184T>A
p.Phe395Tyr (349)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31167
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.1185C>G
p.Phe395Leu (349)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31168
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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