MTRFR

mitochondrial translation release factor in rescue

Summary

This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Known Variants138 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88604903812:123,717,901G/T—uncertain significance
rs131419811212:123,717,941T/C—uncertain significance
rs102549176612:123,717,975A/G—uncertain significance
rs88604903912:123,717,979C/T—uncertain significance
rs11516114912:123,718,056C/T—uncertain significance
rs172733212:123,718,301C/T—benign
rs979552212:123,730,935C/Aupstream gene variant—
rs1153232212:123,731,423A/T——
rs426854412:123,734,774T/C——
rs7658239512:123,737,933G/T—benign
rs37324732112:123,738,214C/T—likely benign
rs20179922212:123,738,230C/T—likely benign
rs97208517512:123,738,243C/G—uncertain significance
rs14865756112:123,738,247T/C—uncertain significance
rs14341071812:123,738,253C/T—uncertain significance
rs75131072012:123,738,255C/T—uncertain significance
rs254759781912:123,738,262C/T—uncertain significance
rs75714827012:123,738,264C/T—pathogenic
rs7865163412:123,738,265G/A—benign
rs254759783712:123,738,268T/C—uncertain significance
rs93028842212:123,738,274C/T—uncertain significance
rs18831010912:123,738,275G/A—conflicting classifications of pathogenicity
rs14045237112:123,738,277C/T—uncertain significance
rs74956918312:123,738,278G/A—likely benign
rs14415054812:123,738,292G/A—uncertain significance
rs77512723212:123,738,311G/A—conflicting classifications of pathogenicity
rs204814478812:123,738,314G/A—likely benign
rs213879265912:123,738,320C/T—likely benign
rs213879270112:123,738,331C/T—uncertain significance
rs14653447512:123,738,333G/A—uncertain significance
rs37714215212:123,738,341G/A—likely benign
rs254759797012:123,738,344C/A—likely benign
rs213879279712:123,738,357A/G—uncertain significance
rs125369037612:123,738,374A/G—likely benign
rs204814657612:123,738,381T/C—uncertain significance
rs155523792512:123,738,383C/A—likely benign
rs74829953512:123,738,387G/C—uncertain significance
rs76865292212:123,738,402G/A—uncertain significance
rs77150773112:123,738,412T/C—uncertain significance
rs213879302112:123,738,415T/C—uncertain significance
rs74879332112:123,738,425C/T—likely benign
rs20051687412:123,738,426G/A—uncertain significance
rs57646279412:123,738,431——pathogenic
rs77409093412:123,738,433G/C—uncertain significance
rs120753713012:123,738,436G/C—uncertain significance
rs37031255212:123,738,450A/G—uncertain significance
rs14094288612:123,738,455C/A—conflicting classifications of pathogenicity
rs14041157512:123,738,464C/T—conflicting classifications of pathogenicity
rs37431119512:123,738,465G/A—uncertain significance
rs159328773012:123,738,467G/A—conflicting classifications of pathogenicity
rs58777650812:123,738,469——pathogenic
rs254759819212:123,738,477C/G—uncertain significance
rs156599803812:123,738,478A/T—uncertain significance
rs254759819612:123,738,479C/T—likely benign
rs77829644312:123,738,488A/G—likely benign
rs254759821912:123,738,490G/A—uncertain significance
rs228042412:123,738,494C/T—benign
rs78174686112:123,738,495G/A—uncertain significance
rs90753549112:123,738,497T/C—likely benign
rs58777766812:123,738,505T/A—pathogenic
rs37725734412:123,738,518G/A—likely benign
rs119793986312:123,738,520C/T—likely benign
rs127905811012:123,738,521G/A—likely benign
rs156842712:123,738,678A/G—benign
rs1077300112:123,741,200A/G—benign
rs37517714912:123,741,347T/C—likely benign
rs124805161612:123,741,350T/C—likely benign
rs204818642812:123,741,352T/G—likely benign
rs254760019012:123,741,359G/T—likely pathogenic
rs106479307412:123,741,360T/Cmissense variantpathogenic
rs254760019412:123,741,369A/C—uncertain significance
rs36754836312:123,741,373G/Amissense variantuncertain significance
rs145927655512:123,741,374A/T—uncertain significance
rs204818694812:123,741,380T/C—likely benign
rs156599918412:123,741,381G/A—uncertain significance
rs57374727112:123,741,386G/A—likely benign
rs37225210412:123,741,402C/T—uncertain significance
rs14709873912:123,741,403G/A—uncertain significance
rs76955135612:123,741,410C/A—conflicting classifications of pathogenicity
rs13853842612:123,741,413A/G—conflicting classifications of pathogenicity
rs76424829912:123,741,423G/A—uncertain significance
rs39812297212:123,741,423——pathogenic
rs37446455612:123,741,424T/C—uncertain significance
rs76774383012:123,741,430T/C—uncertain significance
rs254760028312:123,741,432T/C—uncertain significance
rs14404961212:123,741,434C/T—likely benign
rs147380386212:123,741,438A/G—uncertain significance
rs204818788812:123,741,440T/C—likely benign
rs140391575612:123,741,441G/A—uncertain significance
rs76674294112:123,741,447A/T—uncertain significance
rs90865093012:123,741,449C/T—likely benign
rs126537322112:123,741,466A/C—uncertain significance
rs39751453912:123,741,471C/Tstop gainedpathogenic
rs94152249112:123,741,482G/A—likely benign
rs213880052012:123,741,486A/T—pathogenic
rs204818872112:123,741,487A/G—uncertain significance
rs14732868512:123,741,490A/G—conflicting classifications of pathogenicity
rs254760036612:123,741,491A/G—likely benign
rs39812236512:123,741,492C/Tstop gainedpathogenic
rs125591154612:123,741,496A/G—uncertain significance

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.