rs758821712
- Uncertain significance
Your Genotype
Sign InDescription
Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Reference Allele
C
Alternative Allele
G
T
Chromosome
20
Location
10405647
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_170784.3(MKKS):c.1313G>A (p.Cys438Tyr)
Allele
T
Clinical Significance
Uncertain significance