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Search Results: 2 unique variants retrieved


Variant No. 49
p.(His53Tyr) (Legacy AA No. 35)
Variant Type:
Point
Genomic:
10747C>T
Codon Change:
CAC TAC
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 50
p.(His53Gln) (Legacy AA No. 35)
Variant Type:
Point
Genomic:
10749C>A
Codon Change:
CAC CAA
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show