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
Codon Change:
GAG GAC
Variant Effect:
Missense
Location:
Exon 8
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:
