Variants
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rs373077785

  • Likely benign

Your Genotype

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Description

The p.Leu2348Leu variant (rs373077785) does not alter the amino acid sequence of the TRIOBP protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hearing loss in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.006 percent (identified on 2 out of 30908 chromosomes). Based on these observations, the p.Leu2348Leu variant is likely to be benign.

Reference Allele

T


Alternative Allele

C

Chromosome

22


Location

37772708


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_001039141.3(TRIOBP):c.7044T>C (p.Leu2348=)


Allele

C


Clinical Significance

Likely benign

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