LRRK1

leucine rich repeat kinase 1

Summary

This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]

Known Variants749 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20154328315:101,464,847A/G—uncertain significance
rs74859164815:101,464,851C/T—uncertain significance
rs77064499415:101,464,861C/T—likely benign
rs98231005115:101,464,877T/A—uncertain significance
rs18075948615:101,464,887C/T—uncertain significance
rs77563487215:101,464,888G/A—likely benign
rs135760016615:101,464,893A/C—uncertain significance
rs250561067115:101,464,907C/T—uncertain significance
rs250561068115:101,464,909A/C—likely benign
rs134235092215:101,464,910G/T—pathogenic
rs76775268715:101,464,913C/T—uncertain significance
rs75611017515:101,464,914G/A—uncertain significance
rs1163069115:101,464,915T/C—benign
rs77028470715:101,464,949G/A—likely benign
rs54632325415:101,513,994C/G—likely benign
rs77902870715:101,513,997C/T—likely benign
rs101187740415:101,514,015G/A—uncertain significance
rs138656502815:101,514,026G/C—uncertain significance
rs203111489015:101,514,031G/A—likely benign
rs134609065215:101,514,036C/T—uncertain significance
rs203111647915:101,514,042G/A—uncertain significance
rs37738636315:101,514,046C/T—likely benign
rs203111778015:101,514,047G/A—uncertain significance
rs77760782915:101,514,053C/A—uncertain significance
rs250569477615:101,514,062C/T—uncertain significance
rs129344883215:101,514,066C/G—conflicting classifications of pathogenicity
rs203112073515:101,514,067C/T—likely benign
rs56453354515:101,514,071A/T—uncertain significance
rs75685706015:101,514,072G/C—uncertain significance
rs250569487415:101,514,084T/C—uncertain significance
rs94101216415:101,514,086C/T—uncertain significance
rs78055175315:101,514,087G/A—uncertain significance
rs120842901715:101,514,091C/A—likely benign
rs91882357515:101,514,096A/G—uncertain significance
rs91582667015:101,514,099G/A—conflicting classifications of pathogenicity
rs203112464115:101,514,101C/T—uncertain significance
rs94863943115:101,514,102G/T—uncertain significance
rs52871433015:101,514,110C/T—benign
rs5628945515:101,514,113G/T—uncertain significance
rs132682860515:101,514,123G/A—uncertain significance
rs203112873815:101,514,124G/T—likely benign
rs203112945515:101,514,130G/A—likely benign
rs105319409015:101,514,137G/A—uncertain significance
rs89316697715:101,514,141C/G—uncertain significance
rs145615477015:101,514,146G/T—uncertain significance
rs124925532215:101,514,147A/G—uncertain significance
rs134075095715:101,514,153G/A—uncertain significance
rs7635647315:101,514,157G/C—benign
rs76165438715:101,514,162A/C—uncertain significance
rs90077025915:101,514,163G/A—likely benign
rs79607677315:101,514,164C/A—uncertain significance
rs2846853515:101,514,170A/G—uncertain significance
rs214165379515:101,514,172G/A—pathogenic
rs132834227915:101,514,176G/C—uncertain significance
rs5600931215:101,514,178G/A—likely benign
rs76546452615:101,514,183G/A—likely benign
rs98251877615:101,514,185C/T—benign
rs149062123915:101,514,189C/A—likely benign
rs53272038915:101,514,190C/T—likely benign
rs96240690515:101,514,191C/T—likely benign
rs77986589915:101,523,740T/C—uncertain significance
rs203171423415:101,523,747C/T—likely benign
rs144996821515:101,523,750C/T—likely benign
rs37417094915:101,523,753G/A—likely benign
rs90148977015:101,523,754G/A—uncertain significance
rs77314923915:101,523,761A/G—uncertain significance
rs20079974015:101,523,777G/T—conflicting classifications of pathogenicity
rs77575365915:101,523,781C/T—uncertain significance
rs250570837915:101,523,783C/A—likely benign
rs20205234815:101,523,794G/A—uncertain significance
rs76219689215:101,523,819C/T—likely benign
rs75088482015:101,523,827C/T—uncertain significance
rs76598451015:101,523,843C/T—likely benign
rs75360646115:101,523,844G/A—uncertain significance
rs140844279915:101,523,849G/A—likely benign
rs5602318715:101,523,855G/A—benign
rs77697479015:101,523,857A/G—uncertain significance
rs75815168715:101,523,861T/C—likely benign
rs20004506715:101,523,869C/T—uncertain significance
rs37179662315:101,523,879G/A—likely benign
rs20119867815:101,523,881A/G—uncertain significance
rs37435598915:101,523,889C/G—uncertain significance
rs37529820815:101,523,919A/T—likely benign
rs76375835815:101,528,844T/C—uncertain significance
rs53675209015:101,528,848G/T—conflicting classifications of pathogenicity
rs55221100415:101,528,856C/T—uncertain significance
rs214166980215:101,528,882G/C—uncertain significance
rs20054845415:101,528,893G/A—conflicting classifications of pathogenicity
rs18385879915:101,528,897G/A—likely benign
rs19971023915:101,528,903G/T—benign
rs20211289315:101,528,929C/T—uncertain significance
rs77801335315:101,528,930G/A—likely benign
rs37369257115:101,528,933C/T—likely benign
rs20014447415:101,528,945G/A—likely benign
rs76636532715:101,528,954C/T—likely benign
rs75751976015:101,528,963G/T—uncertain significance
rs37662198915:101,528,969T/C—likely benign
rs93094148815:101,528,972G/C—uncertain significance
rs143929153215:101,528,984C/T—likely benign
rs37023595815:101,528,985G/A—uncertain significance

Showing 100 of 749 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.