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Search Results: 3 unique variants retrieved


Variant No. 269
p.(Trp401Arg) (Legacy AA No. 383)
Variant Type:
Point
Genomic:
23194T>C
Codon Change:
TGG CGG
Variant Effect:
Missense
Location:
Exon 11
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


Variant No. 270
p.(Trp401*) (Legacy AA No. 383)
Variant Type:
Point
Genomic:
23195G>A
Codon Change:
TGG TAG
Variant Effect:
Nonsense
Location:
Exon 11
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 271
p.(Trp401*) (Legacy AA No. 383)
Variant Type:
Point
Genomic:
23196G>A
Codon Change:
TGG TGA
Variant Effect:
Nonsense
Location:
Exon 11
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