rs1251952926

This variant is located in the MTO1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency; Inborn genetic diseases

About MTO1

This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all MTO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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