Data Export Options:


UNIQUE (Without Patient Data) :
MULTIPLE (With Patient Data) :

  Search Results: 9 unique variants retrieved




  c.160G>C
p.Glu54Gln (8)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6397
Mutation Effect:
Missense
Location:
Exon(2)
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.160G>A
p.Glu54Lys (8)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6397
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

  c.160G>A
p.Glu54* (8)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6397
Mutation Effect:
Nonsense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
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.160_161delGA
p.Glu54fs*? (8)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6397
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
2

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.161A>C
p.Glu54Ala (8)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6398
Mutation Effect:
Missense
Location:
Exon(2)
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.161A>G
p.Glu54Gly (8)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6398
Mutation Effect:
Missense
Location:
Exon(2)
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.161_165delAGTTT
p.Glu54Glyfs*? (8)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6398
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
5

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.161A>T
p.Glu54Val (8)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6398
Mutation Effect:
Missense
Location:
Exon(2)
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.162G>C
p.Glu54Asp (8)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6399
Mutation Effect:
Missense
Location:
Exon(2)
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