LHFPL6
LHFPL tetraspan subfamily member 6
Summary
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779904928 | 13:39,918,086 | T/A | — | uncertain significance |
| rs768669302 | 13:39,918,087 | G/C | — | uncertain significance |
| rs367901772 | 13:39,918,141 | C/A | — | uncertain significance |
| rs537894365 | 13:39,952,604 | G/A | — | uncertain significance |
| rs140649130 | 13:39,952,618 | T/C | — | uncertain significance |
| rs957858918 | 13:39,952,631 | G/C | — | uncertain significance |
| rs187660812 | 13:39,952,667 | C/T | — | likely benign |
| rs560181976 | 13:39,978,838 | C/T | — | — |
| rs9576827 | 13:40,080,381 | A/G | intron variant | — |
| rs9315702 | 13:40,118,068 | C/A | intron variant | — |
| rs147774517 | 13:40,174,971 | C/G | — | uncertain significance |
| rs781744229 | 13:40,175,116 | C/T | — | likely benign |
| rs370503212 | 13:40,175,129 | C/A | — | uncertain significance |
| rs373058215 | 13:40,175,145 | C/T | — | uncertain significance |
| rs1197720231 | 13:40,175,160 | A/G | — | uncertain significance |
| rs34616166 | 13:40,175,311 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.