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Search Results: 2 unique variants retrieved


Variant No. 73
p.(Cys172Valfs*95) (Legacy AA No. 132)
Variant Type:
Deletion
Domain:
LC C-term
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 74
p.(Cys172Trp) (Legacy AA No. 132)
Variant Type:
Point
Domain:
LC C-term
Sequence Context:
TGT > TGG
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show