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Search Results: 4 unique variants retrieved


Variant No. 170
p.(Arg252Ile) (Legacy AA No. 234)
Variant Type:
Point
Genomic:
15427G>T
Codon Change:
AGA ATA
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 168
p.(Arg252Lys) (Legacy AA No. 234)
Variant Type:
Point
Genomic:
15427G>A
Codon Change:
AGA AAA
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 169
p.(Arg252Thr) (Legacy AA No. 234)
Variant Type:
Point
Genomic:
15427G>C
Codon Change:
AGA ACA
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 173
p.(Arg252Ser) (Legacy AA No. 234)
Variant Type:
Point
Genomic:
19049A>T
Codon Change:
AGA AGT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show