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  Search Results: 5 unique variants retrieved




  c.1348T>C
p.Tyr450His (404)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31331
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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  c.1348T>A
p.Tyr450Asn (404)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31331
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1348T>A
p.Tyr450Asn (404)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31331
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1349A>G
p.Tyr450Cys (404)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31332
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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  c.1350T>G
p.Tyr450* (404)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31333
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.

Patient Information : Show


Factor IX Variant Database