REFERENCE SEARCH: click one of the four options above to download or display variants/cases from your chosen publication.
Search Results: 1 unique variant retrieved.
Variant Type:
Point
Genomic:
19076G>C
Domain:
Apple 3
Codon Change:
GAG > GAC
Variant Effect:
Missense
Location:
Exon (8)
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