Data Export Options:
Search Results: 2 unique variants retrieved
c.19A>T
p.Ile7Phe (-40)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
48
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.19A>T
p.Ile7Phe (-39)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
48
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.