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Search Results: 2 unique variants retrieved


Variant No. 197
p.(Gly303Glu) (Legacy AA No. 285)
Variant Type:
Point
Genomic:
19302G>A
Codon Change:
GGA GAA
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


Variant No. 196
p.(Gly303Glufs*46) (Legacy AA No. 285)
Variant Type:
Deletion
Genomic:
19302del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 9
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