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Search Results: 1 unique variant retrieved.


Variant No. 327
p.(Gly478Arg) (Legacy AA No. 460)
Variant Type:
Point
Genomic:
24802G>A
Codon Change:
GGG AGG
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
12
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show