HYDIN

HYDIN axonemal central pair apparatus protein

Summary

This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]

Known Variants388 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37525719316:70,841,640C/T—uncertain significance
rs76196493716:70,841,657G/A—likely benign
rs11673027316:70,841,703A/G—likely benign
rs55201084016:70,841,747G/A—likely benign
rs76359418216:70,841,757G/A—uncertain significance
rs124993968616:70,841,917C/T—uncertain significance
rs74720045816:70,841,963G/A—likely benign
rs7960735016:70,843,712G/A—conflicting classifications of pathogenicity
rs203535709116:70,843,827G/C—likely pathogenic
rs19217670216:70,852,240C/T—uncertain significance
rs75675272416:70,852,280G/C—likely benign
rs36962733416:70,852,284G/A—likely benign
rs37283476316:70,852,290G/A—likely benign
rs130581205816:70,852,399A/T—uncertain significance
rs88815411916:70,862,259T/C—uncertain significance
rs250787169316:70,862,288A/C—likely pathogenic
rs55761812316:70,862,394A/G——
rs203684247916:70,863,645G/A—uncertain significance
rs55855716016:70,863,695C/T—likely benign
rs75054500516:70,863,709G/T—uncertain significance
rs177043816:70,863,806T/C—benign
rs75755891116:70,866,856C/T—likely benign
rs250788255816:70,866,973T/C—uncertain significance
rs37212277416:70,867,784C/G—likely benign
rs20213366616:70,867,855G/C—likely benign
rs26760461416:70,867,866G/A—uncertain significance
rs20214556216:70,868,034G/T—likely benign
rs127000336816:70,868,069T/C—likely pathogenic
rs20163669116:70,874,110G/A—likely benign
rs20016922416:70,874,111C/G—uncertain significance
rs37482293316:70,883,691C/T—uncertain significance
rs250791593016:70,884,394G/A—uncertain significance
rs37422402316:70,884,416T/C—uncertain significance
rs139639018516:70,884,559C/T—likely pathogenic
rs37538424816:70,889,114G/T—uncertain significance
rs250792473916:70,889,141C/T—likely benign
rs250269816:70,889,147A/G—benign
rs250792855416:70,891,633G/C—uncertain significance
rs36774752216:70,891,654G/A—likely benign
rs76010747716:70,891,770C/T—uncertain significance
rs248797216:70,891,818T/Aintron variant—
rs56840529616:70,892,250T/A——
rs179831916:70,893,911C/T—likely benign
rs77519956516:70,893,979T/C—uncertain significance
rs250793284416:70,893,991G/A—uncertain significance
rs1107579816:70,894,024C/T—conflicting classifications of pathogenicity
rs76661279216:70,894,047A/T—uncertain significance
rs86853842016:70,894,651C/T—likely benign
rs75875785716:70,894,662C/G—uncertain significance
rs75738334516:70,894,688C/T—uncertain significance
rs135309651816:70,894,752G/A—uncertain significance
rs11246887716:70,894,771C/T—likely benign
rs162659316:70,896,033C/T—uncertain significance
rs19969056916:70,896,090C/T—conflicting classifications of pathogenicity
rs53338847316:70,896,092A/G—likely benign
rs135395433116:70,896,096T/G—uncertain significance
rs55204508516:70,896,126T/C—uncertain significance
rs20157133216:70,897,063G/A—likely benign
rs55963745916:70,897,081C/G—uncertain significance
rs36768476216:70,897,082G/A—likely benign
rs20056502516:70,897,087T/C—uncertain significance
rs110620616:70,899,829G/T——
rs37407398016:70,900,080T/G—likely benign
rs11170688116:70,900,112G/A—uncertain significance
rs19997895116:70,900,170C/T—likely benign
rs77032448916:70,900,215C/T—likely benign
rs36842140516:70,900,222G/A—uncertain significance
rs77289664216:70,902,477C/T—likely benign
rs57708524616:70,902,488G/C—likely benign
rs7941768116:70,902,610G/A—likely benign
rs20026058516:70,905,984G/A—uncertain significance
rs77380558716:70,906,058A/C—uncertain significance
rs214365492116:70,906,084T/C—pathogenic
rs20016532616:70,908,233G/A—likely benign
rs75387212516:70,908,234T/C—uncertain significance
rs76947781516:70,908,287G/C—likely benign
rs250796256016:70,908,296T/C—likely benign
rs156774483016:70,908,340C/A—likely pathogenic
rs250796289116:70,908,350G/A—likely benign
rs77903491816:70,908,374G/A—likely benign
rs98635636316:70,908,462G/A—uncertain significance
rs57820996916:70,908,761G/A—likely benign
rs7563460116:70,908,771G/C—uncertain significance
rs76306629716:70,908,808C/A—likely benign
rs250695230016:70,913,207G/A—uncertain significance
rs36880111316:70,913,216C/T—likely benign
rs74677657716:70,913,233G/C—likely benign
rs7607859016:70,913,316G/A—uncertain significance
rs55362791316:70,913,330C/T—uncertain significance
rs250695276716:70,913,356G/C—uncertain significance
rs75410719316:70,913,372C/T—uncertain significance
rs36798919416:70,913,556A/G—uncertain significance
rs204066713016:70,913,628A/C—uncertain significance
rs78029302216:70,913,649C/T—uncertain significance
rs1214907016:70,913,984C/T——
rs148667666316:70,916,637C/A—uncertain significance
rs204088893316:70,916,664T/C—uncertain significance
rs20110678316:70,916,692G/A—likely benign
rs77413670416:70,916,695G/A—likely benign
rs20045518716:70,916,706C/T—uncertain significance

Showing 100 of 388 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.