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Search Results: 3 unique variants retrieved
c.535G>T
p.Gly179* (133)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20377
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 6.
Patient Information : Show
c.535G>A
p.Gly179Arg (133)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20377
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
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.536G>C
p.Gly179Ala (133)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20378
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.