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Search Results: 2 unique variants retrieved


Variant No. 236
p.(Ile359Tyrfs*13) (Legacy AA No. 341)
Variant Type:
Deletion
Genomic:
19557del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 10
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 238
p.(Ile359Met) (Legacy AA No. 341)
Variant Type:
Point
Genomic:
19559A>G
Codon Change:
ATA ATG
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show