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  Search Results: 6 unique variants retrieved




  c.313G>T
p.Gly105Cys (59)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10427
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.313G>A
p.Gly105Ser (59)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10427
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.313_315delGGC
p.Gly105del (59)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10427
Mutation Effect:
Inframe
Location:
Exon(4)
CpG:
-
No. of patients reported:
1
No. of bases:
3

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 4.

Patient Information : Show

  c.314G>A
p.Gly105Asp (59)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10428
Mutation Effect:
Missense
Location:
Exon(4)
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

  c.314G>T
p.Gly105Val (59)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10428
Mutation Effect:
Missense
Location:
Exon(4)
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.315C>T
p.Gly105Gly (59)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10429
Mutation Effect:
Silent
Location:
Exon(4)
CpG:
-
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 4.

Patient Information : Show


Factor IX Variant Database