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Search Results: 4 unique variants retrieved
c.523C>T
p.Pro175Ser (129)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20365
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.523C>T
p.Pro175Ser (129)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20365
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.524C>T
p.Pro175Leu (129)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20366
Mutation Effect:
Missense
Location:
Exon(6)
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.525A>G
p.Pro175Pro (129)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20367
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.