Variants
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rs587777182

  • Likely pathogenic

Your Genotype

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Description

This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.

Reference Allele

G


Alternative Allele

A

Chromosome

19


Location

7557185


Variant Type

SNP

Genes

ClinVar

Name

NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)


Allele

A


Clinical Significance

Likely pathogenic

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