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Search Results: 2 unique variants retrieved


Variant No. 287
p.(Gln424*) (Legacy AA No. 406)
Variant Type:
Point
Genomic:
23263C>T
Codon Change:
CAG TAG
Variant Effect:
Nonsense
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. 288
p.(Gln424Pro) (Legacy AA No. 406)
Variant Type:
Point
Genomic:
23264A>C
Codon Change:
CAG CCG
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