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  Search Results: 3 unique variants retrieved



  c.96_107del
p.(Trp33_Met36del) (Legacy AA No.14)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 1
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 1

Individual Case Information : Show


  c.97T>G
p.(Trp33Gly) (Legacy AA No.14)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > GGG
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.98G>A
p.(Trp33*) (Legacy AA No.14)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 1
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 1

Individual Case Information : Show