TTC19

tetratricopeptide repeat domain 19

Summary

This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]

Known Variants271 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13831114717:15,902,356C/T—likely benign
rs11597466017:15,902,542G/C—likely benign
rs6174765217:15,902,649T/G—benign
rs18131977917:15,902,663T/G—likely benign
rs6174757417:15,902,711G/A—conflicting classifications of pathogenicity
rs88605262417:15,902,719T/C—uncertain significance
rs6063687517:15,902,816C/A—likely benign
rs20000439417:15,902,823G/C—conflicting classifications of pathogenicity
rs20027134817:15,902,871A/G—likely benign
rs77921863117:15,902,938G/C—uncertain significance
rs145186565417:15,902,944C/A—uncertain significance
rs93894153217:15,902,959G/A—likely benign
rs19984355817:15,902,973C/T—uncertain significance
rs75310020017:15,902,985C/T—conflicting classifications of pathogenicity
rs7327607717:15,902,994C/G—likely benign
rs88605262517:15,903,022G/A—uncertain significance
rs254991740917:15,903,029C/T—likely benign
rs7972411517:15,903,056A/T—conflicting classifications of pathogenicity
rs141119476117:15,903,064C/T—uncertain significance
rs36841197417:15,903,080C/T—uncertain significance
rs77055136217:15,903,083C/T—conflicting classifications of pathogenicity
rs74813332417:15,903,087T/G—uncertain significance
rs14955549817:15,903,090G/A—uncertain significance
rs124268446817:15,903,094G/A—uncertain significance
rs77749224117:15,903,101G/A—uncertain significance
rs135901447517:15,903,109G/T—uncertain significance
rs131952724517:15,903,112G/T—uncertain significance
rs104306817017:15,903,113G/C—uncertain significance
rs77417639217:15,903,119A/G—conflicting classifications of pathogenicity
rs76907809317:15,903,121G/Tregulatory region variantpathogenic
rs76303928017:15,903,145A/G—uncertain significance
rs7327608017:15,903,148G/A—benign
rs230241417:15,903,162C/T—conflicting classifications of pathogenicity
rs74919612217:15,903,163A/G—conflicting classifications of pathogenicity
rs254991796617:15,903,166T/G—uncertain significance
rs75683071417:15,903,169C/Tmissense variantpathogenic
rs143680868317:15,903,171G/T—likely benign
rs142755929717:15,903,179G/A—uncertain significance
rs55077579717:15,903,185G/C—likely benign
rs56808880917:15,903,187C/T—conflicting classifications of pathogenicity
rs78164744317:15,903,189G/C—likely benign
rs254991822417:15,903,200T/G—uncertain significance
rs197066157017:15,903,211G/A—uncertain significance
rs197066242917:15,903,229G/A—uncertain significance
rs121904676917:15,903,233G/A—uncertain significance
rs77374287817:15,903,249C/T—likely benign
rs197066365317:15,903,251C/T—uncertain significance
rs197066371817:15,903,253G/C—uncertain significance
rs254991860617:15,903,262G/A—uncertain significance
rs96206617817:15,903,274C/A—uncertain significance
rs146259352617:15,903,284A/G—conflicting classifications of pathogenicity
rs254991872517:15,903,285G/C—uncertain significance
rs215164014117:15,903,306G/A—likely benign
rs53706369517:15,903,308C/T—conflicting classifications of pathogenicity
rs86868447117:15,903,309G/C—likely benign
rs88605262617:15,903,317G/A—uncertain significance
rs147409228517:15,903,324A/C—likely benign
rs99229070317:15,903,347G/A—likely pathogenic
rs155552853717:15,903,352G/C—likely benign
rs117669461317:15,903,354G/T—likely benign
rs91364156617:15,903,357C/G—likely benign
rs197066807417:15,903,362C/G—likely benign
rs133266515917:15,903,363G/A—likely benign
rs149096132617:15,903,366C/T—likely benign
rs129702683717:15,903,427C/G—uncertain significance
rs89790754617:15,903,436C/G—likely benign
rs77959252317:15,903,441G/Cmissense variantuncertain significance
rs119848787017:15,903,447C/T—uncertain significance
rs115659021217:15,903,473G/C—uncertain significance
rs77452954117:15,903,476C/G—likely benign
rs75951454817:15,903,482G/Tstop gained—
rs75936141517:15,903,487C/G—likely benign
rs131795804817:15,903,488G/C—uncertain significance
rs159744685917:15,903,490C/T—likely benign
rs76092037017:15,903,491G/C—uncertain significance
rs254991993817:15,903,501C/T—uncertain significance
rs75368104317:15,903,502C/T—likely benign
rs76187934517:15,903,509G/C—uncertain significance
rs96760762717:15,903,511G/A—likely benign
rs75787518917:15,903,517C/G—uncertain significance
rs77955301917:15,903,520G/A—likely benign
rs55765487517:15,903,541G/C—uncertain significance
rs96119152917:15,903,551C/T—pathogenic
rs105045378417:15,903,559G/A—uncertain significance
rs74730084117:15,903,573G/C—likely benign
rs128405267517:15,903,576C/T—likely benign
rs91369373617:15,903,578C/G—likely benign
rs75885317:15,903,602C/A—benign
rs11533012917:15,903,869C/A—likely benign
rs7651644817:15,905,048G/A—likely benign
rs7397858617:15,905,078T/C—benign
rs7327608517:15,905,102G/C—benign
rs376029817:15,905,190A/G—benign
rs37466632617:15,905,225T/C—conflicting classifications of pathogenicity
rs78136049017:15,905,269T/A—uncertain significance
rs122311783117:15,905,276T/G—uncertain significance
rs254992495117:15,905,277G/C—uncertain significance
rs57793859317:15,905,279C/T—likely benign
rs37744128117:15,905,280G/A—uncertain significance
rs13969310417:15,905,287G/A—uncertain significance

Showing 100 of 271 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.