TMEM231
transmembrane protein 231
Summary
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Known Variants349 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201560860 | 16:75,573,514 | T/A | — | — |
| rs459211 | 16:75,573,753 | C/T | — | benign |
| rs2242408 | 16:75,573,754 | A/G | — | benign |
| rs2242407 | 16:75,573,884 | T/C | — | benign |
| rs756652972 | 16:75,573,899 | A/C | — | uncertain significance |
| rs1459683666 | 16:75,573,900 | A/G | — | likely benign |
| rs780494581 | 16:75,573,904 | C/T | — | likely benign |
| rs547634830 | 16:75,573,911 | C/A | — | uncertain significance |
| rs778497925 | 16:75,573,912 | A/C | — | uncertain significance |
| rs1362332031 | 16:75,573,913 | C/T | — | likely benign |
| rs182008317 | 16:75,573,915 | A/C | — | likely benign |
| rs186119649 | 16:75,573,916 | G/T | — | likely benign |
| rs1020196870 | 16:75,573,917 | T/A | — | uncertain significance |
| rs2507318795 | 16:75,573,921 | C/A | — | uncertain significance |
| rs746970206 | 16:75,573,923 | C/T | — | conflicting classifications of pathogenicity |
| rs770715825 | 16:75,573,924 | G/A | — | uncertain significance |
| rs759314500 | 16:75,573,928 | C/T | — | likely benign |
| rs2507318870 | 16:75,573,934 | T/G | — | likely benign |
| rs774482599 | 16:75,573,939 | C/T | — | uncertain significance |
| rs199628375 | 16:75,573,943 | A/G | — | likely benign |
| rs2151697600 | 16:75,573,944 | A/G | — | uncertain significance |
| rs768632156 | 16:75,573,945 | T/C | — | uncertain significance |
| rs149888762 | 16:75,573,952 | C/T | — | conflicting classifications of pathogenicity |
| rs375293770 | 16:75,573,955 | C/T | — | likely benign |
| rs761280513 | 16:75,573,960 | G/C | — | uncertain significance |
| rs1278027327 | 16:75,573,965 | T/G | — | uncertain significance |
| rs373660568 | 16:75,573,972 | C/T | — | uncertain significance |
| rs541349898 | 16:75,573,973 | G/A | — | conflicting classifications of pathogenicity |
| rs779314743 | 16:75,573,978 | T/C | — | uncertain significance |
| rs758007266 | 16:75,573,982 | G/C | — | uncertain significance |
| rs2080604104 | 16:75,573,991 | A/G | — | likely benign |
| rs2080604225 | 16:75,574,000 | G/C | — | likely benign |
| rs1394893772 | 16:75,574,002 | G/A | — | uncertain significance |
| rs770469234 | 16:75,574,019 | C/G | — | uncertain significance |
| rs781046083 | 16:75,574,020 | T/C | — | uncertain significance |
| rs2507319245 | 16:75,574,024 | A/G | — | likely benign |
| rs2080604804 | 16:75,574,025 | T/A | — | uncertain significance |
| rs397514754 | 16:75,574,028 | T/G | missense variant | pathogenic |
| rs2242406 | 16:75,574,030 | C/T | — | benign |
| rs775383043 | 16:75,574,038 | C/T | — | uncertain significance |
| rs149118721 | 16:75,574,039 | G/A | — | likely benign |
| rs772364535 | 16:75,574,045 | T/C | — | likely benign |
| rs766469530 | 16:75,574,050 | T/C | — | uncertain significance |
| rs754352443 | 16:75,574,051 | C/T | — | likely benign |
| rs199605221 | 16:75,574,052 | T/G | — | uncertain significance |
| rs797044954 | 16:75,574,053 | C/T | missense variant | uncertain significance |
| rs2151697774 | 16:75,574,057 | G/C | — | uncertain significance |
| rs1412070252 | 16:75,574,063 | T/C | — | likely benign |
| rs758048238 | 16:75,574,066 | C/A | — | uncertain significance |
| rs751199520 | 16:75,574,069 | A/C | — | uncertain significance |
| rs199768195 | 16:75,574,076 | T/G | — | likely benign |
| rs1160382019 | 16:75,574,078 | G/T | — | likely benign |
| rs2080606406 | 16:75,574,089 | A/C | — | likely benign |
| rs116304500 | 16:75,574,944 | A/C | — | benign |
| rs2080625721 | 16:75,575,228 | C/T | — | likely benign |
| rs1413880610 | 16:75,575,230 | C/A | — | likely benign |
| rs1369519439 | 16:75,575,242 | G/C | — | uncertain significance |
| rs2080625882 | 16:75,575,245 | T/C | — | uncertain significance |
| rs1020757759 | 16:75,575,259 | C/T | — | conflicting classifications of pathogenicity |
| rs1230743826 | 16:75,575,263 | G/A | — | uncertain significance |
| rs1295551040 | 16:75,575,264 | G/C | — | uncertain significance |
| rs369010440 | 16:75,575,269 | C/T | — | conflicting classifications of pathogenicity |
| rs2080626295 | 16:75,575,270 | G/A | — | uncertain significance |
| rs2507321621 | 16:75,575,274 | G/A | — | likely benign |
| rs747228664 | 16:75,575,275 | A/G | — | uncertain significance |
| rs776577271 | 16:75,575,282 | T/C | — | uncertain significance |
| rs746025189 | 16:75,575,291 | A/G | — | uncertain significance |
| rs1597037231 | 16:75,575,292 | T/C | — | likely benign |
| rs146210288 | 16:75,575,299 | T/C | — | likely benign |
| rs2080627109 | 16:75,575,302 | G/T | — | uncertain significance |
| rs139236786 | 16:75,575,303 | C/T | — | uncertain significance |
| rs750043051 | 16:75,575,304 | G/A | — | likely benign |
| rs2507321743 | 16:75,575,306 | C/T | — | uncertain significance |
| rs2151698799 | 16:75,575,307 | C/T | — | likely benign |
| rs199813223 | 16:75,575,308 | C/G | — | conflicting classifications of pathogenicity |
| rs1279598268 | 16:75,575,314 | A/G | — | uncertain significance |
| rs2080627660 | 16:75,575,316 | C/T | — | likely benign |
| rs778875107 | 16:75,575,322 | G/C | — | uncertain significance |
| rs2080627748 | 16:75,575,327 | G/T | — | uncertain significance |
| rs2507321890 | 16:75,575,334 | A/G | — | likely benign |
| rs1260355664 | 16:75,575,343 | G/T | — | likely benign |
| rs746055228 | 16:75,575,345 | C/T | — | uncertain significance |
| rs769897831 | 16:75,575,346 | G/A | — | likely benign |
| rs971651334 | 16:75,575,350 | G/A | — | uncertain significance |
| rs780063686 | 16:75,575,356 | G/A | — | uncertain significance |
| rs201237881 | 16:75,575,363 | A/G | — | likely benign |
| rs886039807 | 16:75,575,364 | A/G | — | pathogenic |
| rs1384283174 | 16:75,575,366 | C/G | — | likely benign |
| rs200581224 | 16:75,575,372 | C/T | — | likely benign |
| rs7202717 | 16:75,575,410 | G/A | — | benign |
| rs2641799 | 16:75,575,567 | G/C | — | benign |
| rs2738819 | 16:75,575,692 | G/A | — | benign |
| rs760426025 | 16:75,576,496 | T/C | — | conflicting classifications of pathogenicity |
| rs1481891893 | 16:75,576,499 | C/T | — | conflicting classifications of pathogenicity |
| rs397514753 | 16:75,576,500 | C/G | missense variant | uncertain significance |
| rs776287219 | 16:75,576,501 | G/A | — | conflicting classifications of pathogenicity |
| rs2080639441 | 16:75,576,502 | T/C | — | uncertain significance |
| rs2080639506 | 16:75,576,511 | T/C | — | uncertain significance |
| rs759173235 | 16:75,576,516 | G/C | — | uncertain significance |
| rs752719030 | 16:75,576,528 | A/C | — | uncertain significance |
Showing 100 of 349 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.