TLCD3B
TLC domain containing 3B
Summary
This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1042496176 | 16:30,036,532 | G/A | — | uncertain significance |
| rs985042681 | 16:30,036,542 | G/A | — | uncertain significance |
| rs552445946 | 16:30,036,781 | T/C | — | uncertain significance |
| rs532025183 | 16:30,038,021 | G/A | — | uncertain significance |
| rs773111522 | 16:30,038,030 | G/A | — | uncertain significance |
| rs763015790 | 16:30,038,033 | G/A | — | uncertain significance |
| rs140155911 | 16:30,038,042 | G/A | — | likely benign |
| rs568267337 | 16:30,038,046 | C/T | — | uncertain significance |
| rs370399407 | 16:30,038,049 | C/T | — | uncertain significance |
| rs368320502 | 16:30,040,780 | G/A | — | uncertain significance |
| rs778788645 | 16:30,040,790 | T/G | — | uncertain significance |
| rs745587834 | 16:30,040,796 | C/T | — | pathogenic |
| rs777306533 | 16:30,041,776 | G/A | — | uncertain significance |
| rs11642430 | 16:30,045,789 | C/G | upstream gene variant | — |
| rs35467921 | 16:30,048,553 | C/T | intron variant | — |
| rs4788218 | 16:30,055,750 | T/C | intron variant | — |
| rs541327665 | 16:30,064,861 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.