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  Search Results: 5 unique variants retrieved




  c.1180A>G
p.Met394Val (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31163
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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Patient Information : Show

  c.1180delA
p.Met394Cysfs*32 (348)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31163
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.1181T>A
p.Met394Lys (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31164
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.1181T>G
p.Met394Arg (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31164
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.1182G>A
p.Met394Ile (348)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31165
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


Factor IX Variant Database