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Search Results: 2 unique variants retrieved


Variant No. 200
p.(Ile308Phe) (Legacy AA No. 290)
Variant Type:
Point
Genomic:
19316A>T
Codon Change:
ATT TTT
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. 201
p.(Ile308Thr) (Legacy AA No. 290)
Variant Type:
Point
Genomic:
19317T>C
Codon Change:
ATT ACT
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