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  Search Results: 6 unique variants retrieved




  c.226G>C
p.Glu76Gln (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6463
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.226G>A
p.Glu76Lys (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6463
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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Patient Information : Show

  c.226G>T
p.Glu76* (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6463
Mutation Effect:
Nonsense
Location:
Exon(2)
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 2.

Patient Information : Show

  c.227A>C
p.Glu76Ala (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6464
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.227_229delAAG
p.Glu76del (30)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6464
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
3

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.

Patient Information : Show

  c.228A>C
p.Glu76Asp (30)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6465
Mutation Effect:
Missense
Location:
Exon(2)
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