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  Search Results: 3 unique variants retrieved




  c.424G>A
p.Glu142Lys (96)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17701
Mutation Effect:
Missense
Location:
Exon(5)
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.424G>T
p.Glu142* (96)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17701
Mutation Effect:
Nonsense
Location:
Exon(5)
CpG:
N
No. of patients reported:
4
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.426G>A
p.Glu142Glu (96)
Mutation Type:
Polymorphism
Domain:
EGF2
Nucleotide number:
17703
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 5.

Patient Information : Show


Factor IX Variant Database