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Search Results: 3 unique variants retrieved


Variant No. 348
p.(Trp519*) (Legacy AA No. 501)
Variant Type:
Point
Genomic:
25527G>A
Codon Change:
TGG TAG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
25
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 349
p.(Trp519Ser) (Legacy AA No. 501)
Variant Type:
Point
Genomic:
25527G>C
Codon Change:
TGG TCG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 350
p.(Trp519Cys) (Legacy AA No. 501)
Variant Type:
Point
Genomic:
25528G>C
Codon Change:
TGG TGC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show