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Search Results: 8 unique variants retrieved
c.517G>A
p.Ala173Thr (127)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17794
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.518C>T
p.Ala173Val (127)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17795
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.518C>G
p.Ala173Gly (127)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17795
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
-
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.518_520delCAG
p.Ala173del (127)
Mutation Type:
Deletion
Domain:
Linker
Nucleotide number:
17795
Mutation Effect:
Inframe
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 5.
Patient Information : Show
c.519A>C
p.Ala173Ala (127)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17796
Mutation Effect:
Silent
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 (Point | Silent) of mutation at Exon 5.
Patient Information : Show
c.519A>G
p.Ala173Ala (127)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17796
Mutation Effect:
Silent
Location:
Exon(5)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Silent) of mutation at Exon 5.
Patient Information : Show
c.519A>T
p.Ala173Ala (127)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
17796
Mutation Effect:
Silent
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 (Point | Silent) of mutation at Exon 5.
Patient Information : Show
c.520_724del
p.Ala173_Gly242delfs*5 (127)
Mutation Type:
Deletion
Domain:
Linker
Nucleotide number:
17797
Mutation Effect:
Gross Deletion
Location:
Exon(5-6 inclusive)
CpG:
N
No. of patients reported:
1
No. of bases:
204
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Gross Deletion) of mutation at Exon 5-6 inclusive.