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Search Results: 3 unique variants retrieved


Variant No. 319
p.(Phe460Leu) (Legacy AA No. 442)
Variant Type:
Point
Genomic:
24748T>C
Codon Change:
TTC CTC
Variant Effect:
Missense
Location:
Exon 12
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. 320
p.(Phe460Val) (Legacy AA No. 442)
Variant Type:
Point
Genomic:
24748T>G
Codon Change:
TTC GTC
Variant Effect:
Missense
Location:
Exon 12
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. 321
p.(Phe460Leufs*6) (Legacy AA No. 442)
Variant Type:
Deletion
Genomic:
24750_24753del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 12
No of bases:
4
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