rs373077785
- Likely benign
Your Genotype
Sign InDescription
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