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Search Results: 2 unique variants retrieved


Variant No. 284
p.(Gly418Ser) (Legacy AA No. 400)
Variant Type:
Point
Genomic:
23245G>A
Codon Change:
GGC AGC
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. 285
p.(Gly418Val) (Legacy AA No. 400)
Variant Type:
Point
Genomic:
23246G>T
Codon Change:
GGC GTC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
33
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show