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  Search Results: 7 unique variants retrieved




  c.1287_1288insT
p.Ser430* (384)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31270
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 (Insertion | Frameshift) of mutation at Exon 8.

Patient Information : Show

  c.1289G>A
p.Ser430Asn (384)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31272
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

  c.1289G>C
p.Ser430Thr (384)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31272
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

  c.1289G>T
p.Ser430Ile (384)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31272
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

  c.1290C>A
p.Ser430Arg (384)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31273
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
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

  c.1290C>G
p.Ser430Arg (384)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31273
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.1290C>T
p.Ser430Ser (384)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31273
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 8.

Patient Information : Show


Factor IX Variant Database