TCHH

trichohyalin

Summary

The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]

Known Variants203 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7807765451:152,079,868C/A—uncertain significance
rs3687784191:152,079,906A/G—likely benign
rs3677127221:152,079,911T/G—uncertain significance
rs14707793471:152,079,929T/C—uncertain significance
rs7578341811:152,079,941G/A—uncertain significance
rs5323423601:152,080,008G/T—uncertain significance
rs25266812101:152,080,011C/G—uncertain significance
rs16581430131:152,080,088C/T—uncertain significance
rs3713034791:152,080,121G/C—uncertain significance
rs7720960981:152,080,157G/A—uncertain significance
rs7600182051:152,080,238C/T—likely benign
rs3768318051:152,080,241C/G—uncertain significance
rs2011486041:152,080,271C/T—uncertain significance
rs7773207791:152,080,345C/G—uncertain significance
rs7739348931:152,080,353G/C—likely benign
rs3738417931:152,080,360T/C—uncertain significance
rs7803848971:152,080,424G/A—uncertain significance
rs12338252471:152,080,468C/T—uncertain significance
rs7704758141:152,080,510T/G—uncertain significance
rs14088430821:152,080,585T/C—uncertain significance
rs2007762401:152,080,588C/G—uncertain significance
rs577366871:152,080,604C/G—benign
rs5774482461:152,080,627C/T—uncertain significance
rs7775354391:152,080,715G/C—uncertain significance
rs11897067471:152,080,717T/C—uncertain significance
rs7491524951:152,080,721C/T—uncertain significance
rs3767114761:152,080,757G/C—uncertain significance
rs13046613231:152,080,780C/T—uncertain significance
rs3735116401:152,080,781G/A—uncertain significance
rs7682417551:152,080,855A/C—uncertain significance
rs15578084681:152,080,877G/T—uncertain significance
rs127294611:152,080,890T/C—benign
rs12089009741:152,080,925G/A—uncertain significance
rs13277350491:152,080,941C/G—uncertain significance
rs2018476751:152,080,972C/T—uncertain significance
rs8789017321:152,080,995C/A—uncertain significance
rs5620034091:152,081,015C/T—uncertain significance
rs7691476281:152,081,035C/G—uncertain significance
rs1811281401:152,081,047C/G—uncertain significance
rs3708589141:152,081,059C/T—uncertain significance
rs5485334931:152,081,068C/A—uncertain significance
rs7580190491:152,081,069G/A—uncertain significance
rs7726533271:152,081,107C/A—uncertain significance
rs8666793111:152,081,151C/G—likely benign
rs5311345231:152,081,195C/A—uncertain significance
rs7722236681:152,081,197C/G—uncertain significance
rs7809695631:152,081,198G/A—uncertain significance
rs2022228781:152,081,201C/T—uncertain significance
rs7598050451:152,081,263T/C—uncertain significance
rs3695072751:152,081,302C/T—uncertain significance
rs7776345811:152,081,305A/G—uncertain significance
rs7570659751:152,081,326C/T—uncertain significance
rs1826152561:152,081,362C/G—likely benign
rs3715907311:152,081,363G/C—uncertain significance
rs7515765071:152,081,366C/T—uncertain significance
rs7676942801:152,081,374C/T—uncertain significance
rs9695960951:152,081,410C/T—uncertain significance
rs7674973331:152,081,420G/C—uncertain significance
rs7634605351:152,081,428T/G—uncertain significance
rs1483350141:152,081,444G/C—uncertain significance
rs7676077801:152,081,456C/G—uncertain significance
rs7602922031:152,081,468G/A—uncertain significance
rs5616397621:152,081,540G/A—uncertain significance
rs2008495441:152,081,543G/T—uncertain significance
rs5778929551:152,081,548C/T—likely benign
rs3686499931:152,081,550C/G—uncertain significance
rs14386610301:152,081,552G/C—likely benign
rs7576537261:152,081,554T/C—uncertain significance
rs7792921671:152,081,560T/A—uncertain significance
rs3718063971:152,081,564G/C—uncertain significance
rs7620860701:152,081,582C/T—uncertain significance
rs9270629061:152,081,597C/G—uncertain significance
rs10380187921:152,081,605C/A—uncertain significance
rs24962511:152,081,632C/G—likely benign
rs7806584071:152,081,633G/C—uncertain significance
rs3750499171:152,081,702G/A—uncertain significance
rs7697459061:152,081,707C/G—uncertain significance
rs16582368571:152,081,821C/T—uncertain significance
rs3745550621:152,081,823G/A—likely benign
rs1835401701:152,081,825C/G—uncertain significance
rs16582379471:152,081,837A/G—uncertain significance
rs1429088691:152,081,874T/C—likely benign
rs2006627901:152,081,907T/C—likely benign
rs1882879581:152,081,928A/C—uncertain significance
rs3688023561:152,081,935A/G—uncertain significance
rs7690350851:152,081,944A/T—uncertain significance
rs3772597511:152,081,986C/G—uncertain significance
rs25266928141:152,082,008G/A—uncertain significance
rs7538430581:152,082,026G/C—uncertain significance
rs7664471381:152,082,071G/T—uncertain significance
rs13751677391:152,082,083C/T—uncertain significance
rs10173228121:152,082,118C/G—uncertain significance
rs7485692581:152,082,119G/A—uncertain significance
rs7780617271:152,082,196A/C—likely benign
rs7626490221:152,082,228T/G—uncertain significance
rs7557036741:152,082,239G/C—uncertain significance
rs1844234261:152,082,263C/T—uncertain significance
rs14416429601:152,082,286A/C—likely benign
rs16582605191:152,082,290C/T—uncertain significance
rs3678803941:152,082,296G/A—uncertain significance

Showing 100 of 203 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.