rs376144077
- Uncertain significance
Your Genotype
Sign InDescription
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; A different missense change at this residue (R747W) has been reported in the published literature in association with PLA2G6-related disorders (Paisan-Ruiz et al., 2009; Giri et al., 2016; Ozes et al., 2017)
Reference Allele
C
Alternative Allele
T
Chromosome
22
Location
38112540
Variant Type
SNP
ClinVar
Name
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln)
Allele
T
Clinical Significance
Uncertain significance