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Search Results: 5 unique variants retrieved
c.133A>T
p.Lys45* (-2)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6370
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.133_134delAA
p.Lys45Glufs*3 (-2)
Mutation Type:
Deletion
Domain:
Pro-Peptide
Nucleotide number:
6370
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.133_134insT
p.Lys45Ilefs*4 (-2)
Mutation Type:
Insertion
Domain:
Pro-Peptide
Nucleotide number:
6370
Mutation Effect:
Frameshift
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 (Insertion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.135G>C
p.Lys45Asn (-2)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6372
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.135G>T
p.Lys45Asn (-2)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6372
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.