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  Search Results: 3 unique variants retrieved




  c.487C>T
p.Leu163Phe (117)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17764
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.487_488insC
p.Leu163Profs*9 (117)
Mutation Type:
Insertion
Domain:
EGF2
Nucleotide number:
17764
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 (Insertion | Frameshift) of mutation at Exon 5.

Patient Information : Show

  c.488T>A
p.Leu163His (117)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17765
Mutation Effect:
Missense
Location:
Exon(4)
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