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Search Results: 1 unique variant retrieved.


Variant No. 112
p.(Glu304Lys) (Legacy AA No. 264)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show