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Search Results: 2 unique variants retrieved


Variant No. 32
p.(Glu56Valfs*16) (Legacy AA No. 16)
Variant Type:
Deletion
Domain:
Gla
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 34
p.(Glu56Lys) (Legacy AA No. 16)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show