REFERENCE SEARCH: click one of the four options above to download or display variants/cases from your chosen publication.
Search Results: 2 unique variants retrieved
Variant Type:
Point
Genomic:
15354C>T
Domain:
Apple 3
Codon Change:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon (7)
Pathogenicity (ACMG)
Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
TBA
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 7
Individual Case Information : Show
Variant Type:
Point
Genomic:
15355G>A
Domain:
Apple 3
Codon Change:
CGA > CAA
Variant Effect:
Missense
Location:
Exon (7)
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
TBA