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. 354
p.(Asp526Glnfs*27) (Legacy AA No. 508)
Variant Type:
Deletion
Genomic:
26720_26721delGA
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 13
No of bases:
2
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 No. 355
p.(Asp526Glu) (Legacy AA No. 508)
Variant Type:
Point
Genomic:
26722C>G
Codon Change:
GAC GAG
Variant Effect:
Missense
Location:
Exon 14
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:

Individual Case Information : Show