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Search Results: 2 unique variants retrieved


Variant No. 91
p.(Cys110Alafs*9) (Legacy AA No. 92)
Variant Type:
Deletion
Genomic:
13155del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 5
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 92
p.(Cys110Gly) (Legacy AA No. 92)
Variant Type:
Point
Genomic:
13155T>G
Codon Change:
TGC GGC
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show