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. 180
p.(Arg268Cys) (Legacy AA No. 250)
Variant Type:
Point
Genomic:
19095C>T
Codon Change:
CGC TGC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 181
p.(Arg268His) (Legacy AA No. 250)
Variant Type:
Point
Genomic:
19096G>A
Codon Change:
CGC CAC
Variant Effect:
Missense
Location:
Exon 8
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