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Search Results: 2 unique variants retrieved


Variant No. 104
p.(Asp143Ala) (Legacy AA No. 125)
Variant Type:
Point
Genomic:
13255A>C
Codon Change:
GAC GCC
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 105
p.(Asp143=) (Legacy AA No. 125)
Variant Type:
Point
Genomic:
13256C>T
Codon Change:
GAC GAT
Variant Effect:
Silent
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