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  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

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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):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show