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Search Results: 4 unique variants retrieved
c.103G>T
p.Glu35* (-12)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6340
Mutation Effect:
Nonsense
Location:
Exon(2)
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 2.
Patient Information : Show
c.103G>A
p.Glu35Lys (-11)
Mutation Type:
Polymorphism
Domain:
Pro-Peptide
Nucleotide number:
6340
Mutation Effect:
Missense
Location:
Exon(2)
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.104A>G
p.Glu35Gly (-11)
Mutation Type:
Polymorphism
Domain:
Pro-Peptide
Nucleotide number:
6341
Mutation Effect:
Missense
Location:
Exon(2)
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.105A>C
p.Glu35Asp (-11)
Mutation Type:
Polymorphism
Domain:
Pro-Peptide
Nucleotide number:
6342
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.