Variants
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rs28730714

  • Benign

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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

C


Alternative Allele

A

Chromosome

1


Location

115703055


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_001232.4(CASQ2):c.940-60G>T


Allele

A


Clinical Significance

Benign

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