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  Search Results: 2 unique variants retrieved



  c.6393G>A
p.(Trp2131*) (Legacy AA No.2112)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 22
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 22

Individual Case Information : Show


  c.6393G>T
p.(Trp2131Cys) (Legacy AA No.2112)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TGT
Variant Effect:
Missense
Location:
Exon 22
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show