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Search Results: 3 unique variants retrieved


Variant No. 112
p.(Tyr151Cys) (Legacy AA No. 133)
Variant Type:
Point
Genomic:
13279A>G
Codon Change:
TAC TGC
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 111
p.(Tyr151Ser) (Legacy AA No. 133)
Variant Type:
Point
Genomic:
13279A>C
Codon Change:
TAC TCC
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. 113
p.(Tyr151=) (Legacy AA No. 133)
Variant Type:
Point
Genomic:
13280C>T
Codon Change:
TAC TAT
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