Data Display Options:
Search Results: 5 unique variants retrieved
c.667G>T
p.(Glu223*) (Legacy AA No.204)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon 5
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 5
Individual Case Information : Show
c.667G>A
p.(Glu223Lys) (Legacy AA No.204)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.668_670delAAG
p.(Glu223del) (Legacy AA No.204)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 5
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 5
Individual Case Information : Show
c.669A>G
p.(Glu223=) (Legacy AA No.204)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GAG
Variant Effect:
Silent
Location:
Exon 5
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Silent) of mutation at Exon 5
Individual Case Information : Show
c.669A>T
p.(Glu223Asp) (Legacy AA No.204)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GAT
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):