| Entrez Gene ID | 375612 |
|---|---|
| Official Gene Symbol | LHFPL3 (GeneCards) |
| Full name | LHFPL tetraspan subfamily member 3 |
| Location | 7q22.2-q22.3 |
| Other ids | Vega : OTTHUMG00000157273 MIM : 609719 HGNC : HGNC:6589 Ensembl : ENSG00000187416 |
| Other names | LHFPL4 |
| 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. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008] |
Found 10 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10488 | 375612 | LHFPL3 | 7 | 104365781 | 104365781 | Asymptomatic | HiSeq X Ten |
| 10546 | 375612 | LHFPL3 | 7 | 103979596 | 103979596 | Asymptomatic | HiSeq X Ten |
| 10570 | 375612 | LHFPL3 | 7 | 104159941 | 104159941 | Asymptomatic | HiSeq X Ten |
| 10666 | 375612 | LHFPL3 | 7 | 104007296 | 104007296 | Asymptomatic | HiSeq X Ten |
| 10698 | 375612 | LHFPL3 | 7 | 104242943 | 104242943 | Asymptomatic | HiSeq X Ten |
| 10699 | 375612 | LHFPL3 | 7 | 104398782 | 104398782 | Asymptomatic | HiSeq X Ten |
| 10774 | 375612 | LHFPL3 | 7 | 104166719 | 104166719 | Asymptomatic | HiSeq X Ten |
| 10792 | 375612 | LHFPL3 | 7 | 104309415 | 104309415 | Asymptomatic | HiSeq X Ten |
| 11417 | 375612 | LHFPL3 | 7 | 104038996 | 104038996 | Cockayne syndrome | HiSeq X Ten |
| 11539 | 375612 | LHFPL3 | 7 | 104378783 | 104378783 | Xeroderma Pigmentosum | HiSeq X Ten |