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Search Results: 3 unique variants retrieved


Variant No. 146
p.(Tyr384Cys) (Legacy AA No. 344)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 145
p.(Tyr384Leufs*57) (Legacy AA No. 344)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 8
No of bases:
17
No. of cases reported:
6
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 147
p.(Tyr384*) (Legacy AA No. 344)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TAC > TAA
Variant Effect:
Nonsense
Location:
Exon 8
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show