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Search Results: 3 unique variants retrieved
c.60delA
p.Gly21Aspfs*22 (-26)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
89
Mutation Effect:
Frameshift
Location:
Exon(1)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 1.
Patient Information : Show
c.61G>T
p.Gly21* (-26)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
90
Mutation Effect:
Nonsense
Location:
Exon(1)
CpG:
N
No. of patients reported:
3
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.62G>T
p.Gly21Val (-26)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
91
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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