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Search Results: 2 unique variants retrieved


Variant No. 390
p.(Tyr608His) (Legacy AA No. 590)
Variant Type:
Point
Genomic:
27595T>C
Codon Change:
TAC CAC
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 391
p.(Tyr608*) (Legacy AA No. 590)
Variant Type:
Point
Genomic:
27597C>A
Codon Change:
TAC TAA
Variant Effect:
Nonsense
Location:
Exon 15
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show