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:
Duplication
Genomic:
23268_23274dup
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
7
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:
Individual Case Information : Show
Variant Type:
Point
Genomic:
23276C>T
Codon Change:
ACA ATA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic: