Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



REFERENCE SEARCH: click one of the four options above to download or display variants/cases from your chosen publication.


Search Results: 2 unique variants retrieved


Variant No. 151
p.(Arg228*) (Legacy AA No. 210)
Variant Type:
Point
Genomic:
15354C>T
Codon Change:
CGA TGA
Variant Effect:
Nonsense
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. 152
p.(Arg228Gln) (Legacy AA No. 210)
Variant Type:
Point
Genomic:
15355G>A
Codon Change:
CGA CAA
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