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Search Results: 3 unique variants retrieved


Variant No. 164
p.(Trp246*) (Legacy AA No. 228)
Variant Type:
Point
Genomic:
15409G>A
Codon Change:
TGG TAG
Variant Effect:
Nonsense
Location:
Exon 7
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 165
p.(Trp246*) (Legacy AA No. 228)
Variant Type:
Point
Genomic:
15410G>A
Codon Change:
TGG TGA
Variant Effect:
Nonsense
Location:
Exon 7
No of bases:
1
No. of cases reported:
36
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 166
p.(Trp246Cys) (Legacy AA No. 228)
Variant Type:
Point
Genomic:
15410G>C
Codon Change:
TGG TGC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
15
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show