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  Search Results: 3 unique variants retrieved




  c.1009G>A
p.Ala337Thr (291)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30992
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
9
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1009G>C
p.Ala337Pro (291)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30992
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.1010C>T
p.Ala337Val (291)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30993
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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

Patient Information : Show


Factor IX Variant Database