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  Search Results: 3 unique variants retrieved



  c.1259dupC
p.(Asp422Argfs*2) (Legacy AA No.403)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 8

Individual Case Information : Show


  c.1264G>C
p.(Asp422His) (Legacy AA No.403)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > CAT
Variant Effect:
Missense
Location:
Exon 8
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.1266_1270delTGACA
p.(Asp422Glufs*4) (Legacy AA No.403)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 8
No of bases:
5
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8

Individual Case Information : Show