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:
23207T>A
Domain:
Serine Protease
Codon Change:
CTG > CAG
Variant Effect:
Missense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
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