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Search Results: 3 unique variants retrieved


Variant No. 51
p.(Cys56Arg) (Legacy AA No. 38)
Variant Type:
Point
Genomic:
10756T>C
Codon Change:
TGT CGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
52
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 52
p.(Cys56*) (Legacy AA No. 38)
Variant Type:
Point
Genomic:
10758T>A
Codon Change:
TGT TGA
Variant Effect:
Nonsense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 53
p.(Cys56Trp) (Legacy AA No. 38)
Variant Type:
Point
Genomic:
10758T>G
Codon Change:
TGT TGG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show