Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



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 No. 308
p.(Leu442Cysfs*8) (Legacy AA No. 424)
Variant Type:
Deletion
Genomic:
24695del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 12
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 309
p.(Leu442Phe) (Legacy AA No. 424)
Variant Type:
Point
Genomic:
24696G>C
Codon Change:
TTG TTC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show