rs139313781
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Reference Allele
A
Alternative Allele
G
Chromosome
13
Location
39660870
Variant Type
SNP
Genes
ClinVar
Name
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)
Allele
G
Clinical Significance
Conflicting interpretations of pathogenicity