Data Export Options:


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

  Search Results: 7 unique variants retrieved




  c.478G>A
p.Gly160Arg (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17755
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
9
No. of bases:
1

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

  c.478G>T
p.Gly160* (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17755
Mutation Effect:
Nonsense
Location:
Exon(5)
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 5.

Patient Information : Show

  c.478G>C
p.Gly160Arg (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17755
Mutation Effect:
Missense
Location:
Exon(5)
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.479G>A
p.Gly160Glu (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17756
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
8
No. of bases:
1

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

  c.479G>C
p.Gly160Ala (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17756
Mutation Effect:
Missense
Location:
Exon(5)
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.479G>T
p.Gly160Val (114)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17756
Mutation Effect:
Missense
Location:
Exon(5)
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.479delG
p.Gly160Aspfs*43 (114)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17756
Mutation Effect:
Frameshift
Location:
Exon(5)
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 5.

Patient Information : Show


Factor IX Variant Database