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Search Results: 3 unique variants retrieved


Variant No. 115
p.(Tyr319Asp) (Legacy AA No. 279)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TAT > GAT
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. 114
p.(Tyr319His) (Legacy AA No. 279)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 116
p.(Tyr319Cys) (Legacy AA No. 279)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TAT > TGT
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