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
Codon Change:
CTG CAG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:
