Variants
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rs113842982

  • Likely benign

Your Genotype

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Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

Reference Allele

A


Alternative Allele

T

Chromosome

1


Location

115740502


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_001232.4(CASQ2):c.420+226T>A


Allele

T


Clinical Significance

Likely benign

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