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Search Results: 2 unique variants retrieved


Variant No. 162
p.(Gln244*) (Legacy AA No. 226)
Variant Type:
Point
Genomic:
15402C>T
Codon Change:
CAG TAG
Variant Effect:
Nonsense
Location:
Exon 7
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 163
p.(Gln244Arg) (Legacy AA No. 226)
Variant Type:
Point
Genomic:
15403A>G
Codon Change:
CAG CGG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show