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Search Results: 3 unique variants retrieved


Variant No. 70
p.(Cys76Arg) (Legacy AA No. 58)
Variant Type:
Point
Genomic:
12115T>C
Codon Change:
TGT CGT
Variant Effect:
Missense
Location:
Exon 4
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. 72
p.(Cys76Phe) (Legacy AA No. 58)
Variant Type:
Point
Genomic:
12116G>T
Codon Change:
TGT TTT
Variant Effect:
Missense
Location:
Exon 4
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. 71
p.(Cys76Tyr) (Legacy AA No. 58)
Variant Type:
Point
Genomic:
12116G>A
Codon Change:
TGT TAT
Variant Effect:
Missense
Location:
Exon 4
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