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: 1 unique variant retrieved.


Variant No. 367
p.(Glu565Lys) (Legacy AA No. 547)
Variant Type:
Point
Genomic:
26837G>A
Codon Change:
GAA AAA
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
14
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show