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Search Results: 3 unique variants retrieved
c.540dupA
p.Val181Serfs*8 (135)
Mutation Type:
Duplication
Domain:
Linker
Nucleotide number:
20382
Mutation Effect:
Frameshift
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 (Duplication | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.541G>T
p.Val181Phe (135)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20383
Mutation Effect:
Missense
Location:
Exon(6)
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.542T>C
p.Val181Ala (135)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20384
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.