LHFPL4
LHFPL tetraspan subfamily member 4
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. [provided by RefSeq, Jul 2008]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2474074179 | 3:9,547,666 | T/G | — | uncertain significance |
| rs148006358 | 3:9,547,876 | C/T | — | uncertain significance |
| rs76336857 | 3:9,559,537 | A/T | intron variant | — |
| rs2469940252 | 3:9,593,986 | C/A | — | uncertain significance |
| rs2469940263 | 3:9,593,994 | C/G | — | uncertain significance |
| rs2125669514 | 3:9,594,024 | A/C | — | likely benign |
| rs759901156 | 3:9,594,075 | A/G | — | uncertain significance |
| rs1417170271 | 3:9,594,096 | T/C | — | likely benign |
| rs2469940646 | 3:9,594,200 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.