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Search Results: 2 unique variants retrieved


Variant No. 325
p.(Tyr472*) (Legacy AA No. 454)
Variant Type:
Point
Genomic:
24786T>G
Codon Change:
TAT TAG
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 324
p.(Tyr472=) (Legacy AA No. 454)
Variant Type:
Point
Genomic:
24786T>C
Codon Change:
TAT TAC
Variant Effect:
Silent
Location:
Exon 12
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show