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rs139313781

  • Conflicting interpretations of pathogenicity

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Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

Reference Allele

A


Alternative Allele

G

Chromosome

13


Location

39660870


Variant Type

SNP

Genes

ClinVar

Name

NM_020751.3(COG6):c.358A>G (p.Ser120Gly)


Allele

G


Clinical Significance

Conflicting interpretations of pathogenicity

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