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Search Results: 3 unique variants retrieved


Variant No. 329
p.(Leu483Cysfs*2) (Legacy AA No. 465)
Variant Type:
Deletion
Genomic:
24818del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 12
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. 330
p.(Leu483Ser) (Legacy AA No. 465)
Variant Type:
Point
Genomic:
24818T>C
Codon Change:
TTG TCG
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. 331
p.(Leu483Phefs*2) (Legacy AA No. 465)
Variant Type:
Deletion
Genomic:
24819del
Codon Change:
Variant Effect:
Frameshift
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