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Search Results: 1 unique variant retrieved.


Variant No. 358
p.(Val540Gly) (Legacy AA No. 522)
Variant Type:
Point
Genomic:
26763T>G
Codon Change:
GTG GGG
Variant Effect:
Missense
Location:
Exon 14
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