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Search Results: 2 unique variants retrieved


Variant No. 375
p.(Asp574Ala) (Legacy AA No. 556)
Variant Type:
Point
Genomic:
27494A>C
Codon Change:
GAT GCT
Variant Effect:
Missense
Location:
Exon 15
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. 376
p.(Asp574Gly) (Legacy AA No. 556)
Variant Type:
Point
Genomic:
27494A>G
Codon Change:
GAT GGT
Variant Effect:
Missense
Location:
Exon 15
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