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Search Results: 2 unique variants retrieved


Variant No. 47
p.(Cys90Arg) (Legacy AA No. 50)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGT > CGT
Variant Effect:
Missense
Location:
Exon 4
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. 48
p.(Cys90Tyr) (Legacy AA No. 50)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGT > TAT
Variant Effect:
Missense
Location:
Exon 4
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