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Search Results: 3 unique variants retrieved


Variant No. 245
p.(Tyr369Cys) (Legacy AA No. 351)
Variant Type:
Point
Genomic:
19588A>G
Codon Change:
TAC TGC
Variant Effect:
Missense
Location:
Exon 10
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. 244
p.(Tyr369Ser) (Legacy AA No. 351)
Variant Type:
Point
Genomic:
19588A>C
Codon Change:
TAC TCC
Variant Effect:
Missense
Location:
Exon 10
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. 246
p.(Tyr369*) (Legacy AA No. 351)
Variant Type:
Point
Genomic:
19589C>A
Codon Change:
TAC TAA
Variant Effect:
Nonsense
Location:
Exon 10
No of bases:
1
No. of cases reported:
22
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show