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  Search Results: 3 unique variants retrieved



  c.470G>A
p.(Trp157*) (Legacy AA No.138)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 4
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 4

Individual Case Information : Show


  c.471G>A
p.(Trp157*) (Legacy AA No.138)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 4
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 (Point | Nonsense) of mutation at Exon 4

Individual Case Information : Show


  c.471G>C
p.(Trp157Cys) (Legacy AA No.138)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TGC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show