Variants
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rs138298959

  • Likely benign

Your Genotype

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Description

c.607-15T>C in intron 5 of CASQ2: This variant is not expected to have clinical significance because a T>C change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 9/10038 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs138298959).

Reference Allele

A


Alternative Allele

G

Chromosome

1


Location

115727137


Variant Type

SNP

Genes

ClinVar

Name

NM_001232.4(CASQ2):c.607-15T>C


Allele

G


Clinical Significance

Likely benign

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