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Search Results: 3 unique variants retrieved
c.658T>A
p.Ser220Thr (174)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20500
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.659C>G
p.Ser220* (174)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20501
Mutation Effect:
Nonsense
Location:
Exon(6)
CpG:
-
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 | Nonsense) of mutation at Exon 6.
Patient Information : Show
c.659delC
p.Ser220Tyrfs*25 (174)
Mutation Type:
Deletion
Domain:
Act-Peptide
Nucleotide number:
20501
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 6.