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  Search Results: 4 unique variants retrieved




  c.484C>A
p.Arg162Arg (116)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17761
Mutation Effect:
Silent
Location:
Exon(5)
CpG:
Y
No. of patients reported:
6
No. of bases:
1

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Silent) of mutation at Exon 5.

Patient Information : Show

  c.484C>T
p.Arg162* (116)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17761
Mutation Effect:
Nonsense
Location:
Exon(5)
CpG:
Y
No. of patients reported:
34
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.485G>T
p.Arg162Leu (116)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17762
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.485G>A
p.Arg162Gln (116)
Mutation Type:
Polymorphism
Domain:
EGF2
Nucleotide number:
17762
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


Factor IX Variant Database