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Search Results: 2 unique variants retrieved


Variant No. 198
p.(Asp307Ilefs*42) (Legacy AA No. 289)
Variant Type:
Deletion
Genomic:
19313del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 9
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


Variant No. 199
p.(Asp307Tyr) (Legacy AA No. 289)
Variant Type:
Point
Genomic:
19313G>T
Codon Change:
GAT TAT
Variant Effect:
Missense
Location:
Exon 9
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