TMEM43
transmembrane protein 43
Summary
This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
Known Variants742 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs57196972 | 3:14,166,280 | C/T | — | benign |
| rs2733578 | 3:14,166,394 | T/C | — | benign |
| rs140252037 | 3:14,166,433 | C/T | — | likely benign |
| rs17038940 | 3:14,166,552 | G/A | — | benign |
| rs1694999879 | 3:14,166,663 | G/A | — | benign |
| rs1397752021 | 3:14,166,679 | G/A | — | uncertain significance |
| rs1297155669 | 3:14,166,681 | G/C | — | uncertain significance |
| rs1172320846 | 3:14,166,682 | C/T | — | uncertain significance |
| rs767001935 | 3:14,166,683 | C/T | — | likely benign |
| rs2470169964 | 3:14,166,684 | G/C | — | uncertain significance |
| rs1281893880 | 3:14,166,688 | C/T | — | conflicting classifications of pathogenicity |
| rs760598925 | 3:14,166,690 | C/T | — | conflicting classifications of pathogenicity |
| rs763829810 | 3:14,166,691 | A/G | — | uncertain significance |
| rs754747623 | 3:14,166,692 | C/T | — | conflicting classifications of pathogenicity |
| rs757083718 | 3:14,166,694 | A/G | — | uncertain significance |
| rs765619239 | 3:14,166,695 | T/A | — | uncertain significance |
| rs2470170017 | 3:14,166,696 | G/A | — | uncertain significance |
| rs1695000807 | 3:14,166,697 | G/C | — | uncertain significance |
| rs1262797668 | 3:14,166,699 | C/A | — | likely benign |
| rs2470170038 | 3:14,166,700 | G/A | — | uncertain significance |
| rs587780964 | 3:14,166,701 | C/G | — | uncertain significance |
| rs2470170053 | 3:14,166,704 | A/T | — | uncertain significance |
| rs1239667599 | 3:14,166,706 | G/A | — | uncertain significance |
| rs1016495734 | 3:14,166,707 | T/C | — | uncertain significance |
| rs2124981822 | 3:14,166,709 | A/C | — | uncertain significance |
| rs192235215 | 3:14,166,721 | C/T | — | likely benign |
| rs202159933 | 3:14,166,739 | G/C | — | likely benign |
| rs2733579 | 3:14,166,835 | C/T | — | benign |
| rs2733580 | 3:14,166,872 | C/T | — | benign |
| rs56808750 | 3:14,170,348 | A/G | — | likely benign |
| rs116578606 | 3:14,170,392 | C/T | — | benign |
| rs73022888 | 3:14,170,393 | G/A | — | benign |
| rs151145310 | 3:14,170,395 | G/A | — | likely benign |
| rs540449031 | 3:14,170,491 | A/C | — | likely benign |
| rs117511391 | 3:14,170,584 | C/T | — | likely benign |
| rs766665492 | 3:14,170,908 | T/C | — | likely benign |
| rs751726505 | 3:14,170,909 | C/T | — | conflicting classifications of pathogenicity |
| rs759720857 | 3:14,170,910 | A/C | — | uncertain significance |
| rs2124985459 | 3:14,170,911 | G/C | — | uncertain significance |
| rs727505249 | 3:14,170,912 | T/C | — | uncertain significance |
| rs753209951 | 3:14,170,913 | A/G | — | uncertain significance |
| rs756575126 | 3:14,170,916 | C/G | — | conflicting classifications of pathogenicity |
| rs2470176195 | 3:14,170,918 | A/G | — | uncertain significance |
| rs371236613 | 3:14,170,920 | T/G | — | uncertain significance |
| rs1190861510 | 3:14,170,922 | C/A | — | uncertain significance |
| rs1054032061 | 3:14,170,924 | A/C | — | uncertain significance |
| rs1695062743 | 3:14,170,925 | G/C | — | uncertain significance |
| rs1695062781 | 3:14,170,926 | T/C | — | likely benign |
| rs757554576 | 3:14,170,929 | C/T | — | likely benign |
| rs201085402 | 3:14,170,930 | C/T | — | conflicting classifications of pathogenicity |
| rs568179990 | 3:14,170,931 | G/A | — | uncertain significance |
| rs1559359985 | 3:14,170,934 | G/A | — | conflicting classifications of pathogenicity |
| rs1444701312 | 3:14,170,938 | A/G | — | likely benign |
| rs769902062 | 3:14,170,939 | C/T | — | uncertain significance |
| rs1695063152 | 3:14,170,940 | A/G | — | uncertain significance |
| rs773252383 | 3:14,170,941 | T/A | — | uncertain significance |
| rs150334659 | 3:14,170,944 | C/A | — | likely benign |
| rs770619613 | 3:14,170,946 | A/T | — | uncertain significance |
| rs1695063356 | 3:14,170,947 | A/C | — | uncertain significance |
| rs370973153 | 3:14,170,948 | G/A | — | conflicting classifications of pathogenicity |
| rs1695063437 | 3:14,170,949 | T/C | — | uncertain significance |
| rs397517383 | 3:14,170,950 | T/G | — | likely benign |
| rs1214893591 | 3:14,170,952 | A/G | — | uncertain significance |
| rs1215994204 | 3:14,170,956 | C/G | — | likely benign |
| rs1261978753 | 3:14,170,958 | G/C | — | uncertain significance |
| rs766364454 | 3:14,170,959 | C/T | — | likely benign |
| rs794729183 | 3:14,170,961 | C/T | — | uncertain significance |
| rs1695063853 | 3:14,170,963 | C/T | — | uncertain significance |
| rs2470176335 | 3:14,170,964 | A/G | — | uncertain significance |
| rs767619018 | 3:14,170,968 | A/C | — | likely benign |
| rs2124985579 | 3:14,170,976 | T/C | — | uncertain significance |
| rs1695064079 | 3:14,170,977 | G/A | — | likely benign |
| rs35028636 | 3:14,170,981 | C/T | — | likely benign |
| rs757651177 | 3:14,170,982 | G/A | — | uncertain significance |
| rs1695064359 | 3:14,170,985 | T/C | — | uncertain significance |
| rs570799464 | 3:14,170,988 | G/A | — | conflicting classifications of pathogenicity |
| rs373839281 | 3:14,170,989 | C/T | — | conflicting classifications of pathogenicity |
| rs754536393 | 3:14,170,990 | G/A | — | conflicting classifications of pathogenicity |
| rs1021721320 | 3:14,170,995 | C/T | — | likely benign |
| rs539753097 | 3:14,170,997 | C/T | — | conflicting classifications of pathogenicity |
| rs147710692 | 3:14,170,998 | G/A | — | conflicting classifications of pathogenicity |
| rs1376541965 | 3:14,170,999 | G/A | — | uncertain significance |
| rs1474026817 | 3:14,171,001 | T/A | — | likely benign |
| rs1308637165 | 3:14,171,004 | G/A | — | likely benign |
| rs2470176497 | 3:14,171,005 | A/G | — | uncertain significance |
| rs1695064880 | 3:14,171,006 | T/A | — | uncertain significance |
| rs1695064905 | 3:14,171,007 | G/A | — | uncertain significance |
| rs1695064937 | 3:14,171,008 | T/C | — | uncertain significance |
| rs1695064977 | 3:14,171,009 | T/G | — | uncertain significance |
| rs977468112 | 3:14,171,011 | G/A | — | uncertain significance |
| rs1695065091 | 3:14,171,012 | T/A | — | uncertain significance |
| rs1231946683 | 3:14,171,016 | G/C | — | likely benign |
| rs755682525 | 3:14,171,017 | C/G | — | uncertain significance |
| rs777915392 | 3:14,171,019 | C/T | — | likely benign |
| rs144334386 | 3:14,171,020 | A/G | — | conflicting classifications of pathogenicity |
| rs2124985701 | 3:14,171,023 | G/T | — | uncertain significance |
| rs1695065337 | 3:14,171,030 | T/C | — | uncertain significance |
| rs1451474822 | 3:14,171,032 | C/T | — | uncertain significance |
| rs1205453844 | 3:14,171,034 | C/G | — | likely benign |
| rs145510310 | 3:14,171,035 | T/C | — | uncertain significance |
Showing 100 of 742 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.