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Search Results: 6 unique variants retrieved
c.676C>G
p.Arg226Gly (180)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20518
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
9
No. of bases:
1
Structural Information
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c.676C>T
p.Arg226Trp (180)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20518
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
59
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.677G>A
p.Arg226Gln (180)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20519
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
69
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.677G>C
p.Arg226Pro (180)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20519
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.677G>T
p.Arg226Leu (180)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20519
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of patients reported:
5
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.678G>T
p.Arg226Arg (180)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20520
Mutation Effect:
Silent
Location:
Exon(6)
CpG:
-
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.
Patient Information : Show
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,
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