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Search Results: 5 unique variants retrieved
c.580A>G
p.Thr194Ala (148)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20422
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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Patient Information : Show
c.580G>A
p.The194Ala (148)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20422
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.582_583delTG
p.Thr194Thrfs*4 (148)
Mutation Type:
Deletion
Domain:
Act-Peptide
Nucleotide number:
20424
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.582T>C
p.Thr194Thr (148)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20424
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.
Patient Information : Show
c.582T>G
p.Thr194Thr (148)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20424
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.