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Search Results: 2 unique variants retrieved
Variant Type:
Duplication
Genomic:
23268_23274dup
Domain:
Serine Protease
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (11)
No of bases:
7
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity (ACMG)
Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
TBA
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of the variant at Exon 11
Individual Case Information : Show
Variant Type:
Point
Genomic:
23276C>T
Domain:
Serine Protease
Codon Change:
ACA > ATA
Variant Effect:
Missense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic:
TBA