LHFPL5

LHFPL tetraspan subfamily member 5

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 this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

Known Variants142 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9470103	6:35,772,027	T/A	upstream gene variant	—
rs2766523	6:35,772,211	G/T	—	—
rs2817023	6:35,772,268	C/T	—	—
rs2766524	6:35,772,755	G/A	—	benign
rs187215821	6:35,773,111	G/T	—	uncertain significance
rs886061339	6:35,773,113	A/G	—	uncertain significance
rs886061340	6:35,773,143	G/A	—	uncertain significance
rs886061342	6:35,773,287	A/G	—	uncertain significance
rs143126474	6:35,773,316	A/G	—	conflicting classifications of pathogenicity
rs146758343	6:35,773,320	C/T	—	conflicting classifications of pathogenicity
rs540528658	6:35,773,355	C/T	—	uncertain significance
rs41270084	6:35,773,385	C/G	—	uncertain significance
rs375993440	6:35,773,418	G/C	—	uncertain significance
rs1060499810	6:35,773,448	A/G	missense variant	pathogenic
rs1478034448	6:35,773,484	A/G	—	uncertain significance
rs149941106	6:35,773,490	C/T	—	conflicting classifications of pathogenicity
rs1187779262	6:35,773,492	T/C	—	likely benign
rs138322541	6:35,773,506	G/A	—	uncertain significance
rs766245505	6:35,773,520	G/T	—	uncertain significance
rs1768557675	6:35,773,529	A/T	—	uncertain significance
rs2151068713	6:35,773,544	A/C	—	uncertain significance
rs779440139	6:35,773,586	C/A	—	uncertain significance
rs886061343	6:35,773,587	C/A	—	uncertain significance
rs1581967353	6:35,773,591	C/T	—	likely benign
rs2151068732	6:35,773,600	C/T	—	likely benign
rs898913952	6:35,773,601	G/A	—	uncertain significance
rs771631412	6:35,773,616	C/T	—	uncertain significance
rs876657848	6:35,773,623	C/A	—	uncertain significance
rs759519282	6:35,773,634	G/A	—	uncertain significance
rs886061344	6:35,773,653	T/C	—	uncertain significance
rs727503133	6:35,773,661	G/A	—	uncertain significance
rs2534422603	6:35,773,695	C/T	—	uncertain significance
rs141665001	6:35,773,761	T/C	—	uncertain significance
rs200392480	6:35,773,768	C/T	—	likely benign
rs760970028	6:35,773,774	T/G	—	uncertain significance
rs202178128	6:35,773,782	T/C	—	conflicting classifications of pathogenicity
rs1768563631	6:35,773,785	T/C	—	uncertain significance
rs373755299	6:35,773,795	C/G	—	uncertain significance
rs2534422913	6:35,773,803	T/C	—	uncertain significance
rs147162459	6:35,773,813	C/T	—	uncertain significance
rs753328267	6:35,773,815	C/T	—	uncertain significance
rs886061345	6:35,773,819	C/T	—	uncertain significance
rs104893975	6:35,773,827	A/G	missense variant	pathogenic
rs756967336	6:35,773,842	G/A	—	pathogenic
rs1561950937	6:35,773,844	A/G	—	uncertain significance
rs140326236	6:35,773,858	G/A	—	conflicting classifications of pathogenicity
rs530377731	6:35,773,880	G/A	—	likely benign
rs111934436	6:35,773,900	G/A	—	likely benign
rs879668	6:35,780,157	T/A	—	—
rs781531174	6:35,782,286	C/T	—	likely benign
rs2151070785	6:35,782,340	G/A	—	uncertain significance
rs1291098552	6:35,782,356	C/T	—	uncertain significance
rs762876554	6:35,782,362	G/T	—	pathogenic
rs144202605	6:35,782,363	T/C	—	likely benign
rs1298538835	6:35,782,364	T/G	—	uncertain significance
rs147861688	6:35,782,370	T/A	—	uncertain significance
rs753739358	6:35,782,382	C/T	—	pathogenic
rs566829909	6:35,782,383	G/A	—	uncertain significance
rs886038753	6:35,782,384	G/A	—	likely benign
rs755791421	6:35,782,385	C/T	—	uncertain significance
rs139179263	6:35,782,386	G/A	—	conflicting classifications of pathogenicity
rs2534433669	6:35,782,397	G/A	—	uncertain significance
rs1316624915	6:35,782,400	C/T	—	uncertain significance
rs104893976	6:35,782,404	C/T	missense variant	pathogenic
rs1389821363	6:35,782,414	C/G	—	likely pathogenic
rs372084864	6:35,782,416	C/T	—	uncertain significance
rs149932459	6:35,782,417	G/A	—	likely benign
rs2151070819	6:35,782,421	G/A	—	uncertain significance
rs968250165	6:35,782,432	C/T	—	likely benign
rs557741915	6:35,782,435	C/A	—	likely benign
rs774466373	6:35,782,437	G/A	—	uncertain significance
rs1161698428	6:35,782,466	A/G	—	uncertain significance
rs144981322	6:35,782,472	G/A	—	uncertain significance
rs1554147220	6:35,782,485	T/C	—	pathogenic
rs758441640	6:35,782,496	G/T	—	uncertain significance
rs369419802	6:35,782,502	G/A	—	uncertain significance
rs781647481	6:35,782,515	G/A	—	uncertain significance
rs149081163	6:35,782,525	G/C	—	likely benign
rs564743695	6:35,782,537	C/T	—	likely benign
rs375556198	6:35,782,544	A/G	—	uncertain significance
rs555379908	6:35,782,548	C/A	—	uncertain significance
rs17852586	6:35,782,558	C/T	—	uncertain significance
rs2151070865	6:35,782,565	C/A	—	uncertain significance
rs779045123	6:35,782,572	C/T	—	likely benign
rs199633567	6:35,782,576	A/G	—	likely benign
rs187239813	6:35,784,071	T/G	intron variant	—
rs2038962	6:35,786,899	T/G	—	benign
rs761686883	6:35,787,203	C/T	—	likely benign
rs767421846	6:35,787,214	A/G	—	uncertain significance
rs1445573930	6:35,787,241	G/A	—	pathogenic
rs879493	6:35,787,417	C/T	—	benign
rs144716280	6:35,787,499	G/A	—	benign
rs146636554	6:35,787,601	C/T	intron variant	—
rs192156677	6:35,788,305	G/A	intron variant	—
rs181922784	6:35,790,911	G/C	—	uncertain significance
rs886061346	6:35,790,912	A/G	—	uncertain significance
rs9470110	6:35,790,941	A/G	—	uncertain significance
rs189788458	6:35,790,973	G/C	—	uncertain significance
rs115413675	6:35,790,983	G/A	—	uncertain significance
rs2766530	6:35,791,087	G/A	—	benign

Showing 100 of 142 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.