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. 80
p.(Arg179Cys) (Legacy AA No. 139)
Variant Type:
Point
Domain:
LC C-term
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 79
p.(Arg179Ser) (Legacy AA No. 139)
Variant Type:
Point
Domain:
LC C-term
Sequence Context:
CGC > AGC
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show