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Search Results: 2 unique variants retrieved


Variant No. 292
p.(Thr428Aspfs*15) (Legacy AA No. 410)
Variant Type:
Duplication
Genomic:
23268_23274dup
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
7
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


Variant No. 294
p.(Thr428Ile) (Legacy AA No. 410)
Variant Type:
Point
Genomic:
23276C>T
Codon Change:
ACA ATA
Variant Effect:
Missense
Location:
Exon 11
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