Variants
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rs1555751597

  • Pathogenic

Your Genotype

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Description

This sequence change creates a premature translational stop signal (p.Trp1130*) in the PNPLA6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PNPLA6-related disease. ClinVar contains an entry for this variant (Variation ID: 469619). Loss-of-function variants in PNPLA6 are known to be pathogenic (PMID: 24355708). For these reasons, this variant has been classified as Pathogenic.

Reference Allele

G


Alternative Allele

A

Chromosome

19


Location

7558955


Variant Type

SNP

Genes

ClinVar

Name

NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter)


Allele

A


Clinical Significance

Pathogenic

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