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Search Results: 3 unique variants retrieved


Variant No. 297
p.(Ala430Ser) (Legacy AA No. 412)
Variant Type:
Point
Genomic:
23281G>T
Codon Change:
GCT TCT
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. 296
p.(Ala430Thr) (Legacy AA No. 412)
Variant Type:
Point
Genomic:
23281G>A
Codon Change:
GCT ACT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 298
p.(Ala430Val) (Legacy AA No. 412)
Variant Type:
Point
Genomic:
23282C>T
Codon Change:
GCT GTT
Variant Effect:
Missense
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