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Search Results: 3 unique variants retrieved
c.59T>A
p.Leu20* (-27)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
88
Mutation Effect:
Nonsense
Location:
Exon(1)
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 1.
Patient Information : Show
c.59T>C
p.Leu20Ser (-27)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
88
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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Patient Information : Show
c.60A>G
p.Leu20Leu (-26)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
89
Mutation Effect:
Silent
Location:
Exon(1)
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 1.