Variants
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rs376144077

  • Uncertain significance

Your Genotype

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Description

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

Genes

ClinVar

Name

NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln)


Allele

T


Clinical Significance

Uncertain significance

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