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Search Results: 2 unique variants retrieved


Variant No. 345
p.(Trp515Gly) (Legacy AA No. 497)
Variant Type:
Point
Genomic:
25514T>G
Codon Change:
TGG GGG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 346
p.(Trp515Cys) (Legacy AA No. 497)
Variant Type:
Point
Genomic:
25516G>T
Codon Change:
TGG TGT
Variant Effect:
Missense
Location:
Exon 13
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