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Search Results: 7 unique variants retrieved
c.519dup
p.Val174fs*? (128)
Mutation Type:
Duplication
Domain:
Linker
Nucleotide number:
17796
Mutation Effect:
Frameshift
Location:
Exon(5)
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 (Duplication | Frameshift) of mutation at Exon 5.
Patient Information : Show
c.519dupA
p.Val174Serfs*13 (128)
Mutation Type:
Duplication
Domain:
Linker
Nucleotide number:
17796
Mutation Effect:
Frameshift
Location:
Exon(5)
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 (Duplication | Frameshift) of mutation at Exon 5.
Patient Information : Show
c.520G>A
p.Val174Met (128)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17797
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.520G>T
p.Val174Leu (128)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17797
Mutation Effect:
Missense
Location:
Exon(5)
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.520G>C
p.Val174Leu (128)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17797
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
-
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.520delG
p.Val174Cysfs*29 (128)
Mutation Type:
Deletion
Domain:
Linker
Nucleotide number:
17797
Mutation Effect:
Frameshift
Location:
Exon(5)
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 (Deletion | Frameshift) of mutation at Exon 5.
Patient Information : Show
c.522G>A
p.Val174Val (128)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20364
Mutation Effect:
Silent
Location:
Exon(6)
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 6.