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Search Results: 2 unique variants retrieved


Variant No. 44
p.(Gln47Pro) (Legacy AA No. 29)
Variant Type:
Point
Genomic:
10730A>C
Codon Change:
CAG CCG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 45
p.(Gln47His) (Legacy AA No. 29)
Variant Type:
Point
Genomic:
10731G>C
Codon Change:
CAG CAC
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show