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  Search Results: 3 unique variants retrieved




  c.1321T>C
p.Tyr441His (395)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31304
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.1322A>G
p.Tyr441Cys (395)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31305
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.1323T>G
p.Tyr441* (395)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31306
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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

Patient Information : Show


Factor IX Variant Database