Variants
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rs28730709

  • Benign/Likely benign

Your Genotype

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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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

Reference Allele

C


Alternative Allele

T

Chromosome

1


Location

115701098


Variant Type

SNP

Genes

ClinVar

Name

NM_001232.4(CASQ2):c.*143G>A


Allele

T


Clinical Significance

Benign/Likely benign

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