Data Export Options:
Search Results: 4 unique variants retrieved
c.616G>A
p.Glu206Lys (160)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20458
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.618_627delAGCTGAAACC
p.Glu206fs*? (160)
Mutation Type:
Deletion
Domain:
Act-Peptide
Nucleotide number:
20460
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
N
No. of patients reported:
2
No. of bases:
10
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.618A>G
p.Glu206Glu (160)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20460
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.619_628GCTGAAACCA
p.Glu206fs*? (160)
Mutation Type:
Deletion
Domain:
Act-Peptide
Nucleotide number:
20461
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
9
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 6.