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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs780776545	1:152,079,868	C/A	—	uncertain significance
rs368778419	1:152,079,906	A/G	—	likely benign
rs367712722	1:152,079,911	T/G	—	uncertain significance
rs1470779347	1:152,079,929	T/C	—	uncertain significance
rs757834181	1:152,079,941	G/A	—	uncertain significance
rs532342360	1:152,080,008	G/T	—	uncertain significance
rs2526681210	1:152,080,011	C/G	—	uncertain significance
rs1658143013	1:152,080,088	C/T	—	uncertain significance
rs371303479	1:152,080,121	G/C	—	uncertain significance
rs772096098	1:152,080,157	G/A	—	uncertain significance
rs760018205	1:152,080,238	C/T	—	likely benign
rs376831805	1:152,080,241	C/G	—	uncertain significance
rs201148604	1:152,080,271	C/T	—	uncertain significance
rs777320779	1:152,080,345	C/G	—	uncertain significance
rs773934893	1:152,080,353	G/C	—	likely benign
rs373841793	1:152,080,360	T/C	—	uncertain significance
rs780384897	1:152,080,424	G/A	—	uncertain significance
rs1233825247	1:152,080,468	C/T	—	uncertain significance
rs770475814	1:152,080,510	T/G	—	uncertain significance
rs1408843082	1:152,080,585	T/C	—	uncertain significance
rs200776240	1:152,080,588	C/G	—	uncertain significance
rs57736687	1:152,080,604	C/G	—	benign
rs577448246	1:152,080,627	C/T	—	uncertain significance
rs777535439	1:152,080,715	G/C	—	uncertain significance
rs1189706747	1:152,080,717	T/C	—	uncertain significance
rs749152495	1:152,080,721	C/T	—	uncertain significance
rs376711476	1:152,080,757	G/C	—	uncertain significance
rs1304661323	1:152,080,780	C/T	—	uncertain significance
rs373511640	1:152,080,781	G/A	—	uncertain significance
rs768241755	1:152,080,855	A/C	—	uncertain significance
rs1557808468	1:152,080,877	G/T	—	uncertain significance
rs12729461	1:152,080,890	T/C	—	benign
rs1208900974	1:152,080,925	G/A	—	uncertain significance
rs1327735049	1:152,080,941	C/G	—	uncertain significance
rs201847675	1:152,080,972	C/T	—	uncertain significance
rs878901732	1:152,080,995	C/A	—	uncertain significance
rs562003409	1:152,081,015	C/T	—	uncertain significance
rs769147628	1:152,081,035	C/G	—	uncertain significance
rs181128140	1:152,081,047	C/G	—	uncertain significance
rs370858914	1:152,081,059	C/T	—	uncertain significance
rs548533493	1:152,081,068	C/A	—	uncertain significance
rs758019049	1:152,081,069	G/A	—	uncertain significance
rs772653327	1:152,081,107	C/A	—	uncertain significance
rs866679311	1:152,081,151	C/G	—	likely benign
rs531134523	1:152,081,195	C/A	—	uncertain significance
rs772223668	1:152,081,197	C/G	—	uncertain significance
rs780969563	1:152,081,198	G/A	—	uncertain significance
rs202222878	1:152,081,201	C/T	—	uncertain significance
rs759805045	1:152,081,263	T/C	—	uncertain significance
rs369507275	1:152,081,302	C/T	—	uncertain significance
rs777634581	1:152,081,305	A/G	—	uncertain significance
rs757065975	1:152,081,326	C/T	—	uncertain significance
rs182615256	1:152,081,362	C/G	—	likely benign
rs371590731	1:152,081,363	G/C	—	uncertain significance
rs751576507	1:152,081,366	C/T	—	uncertain significance
rs767694280	1:152,081,374	C/T	—	uncertain significance
rs969596095	1:152,081,410	C/T	—	uncertain significance
rs767497333	1:152,081,420	G/C	—	uncertain significance
rs763460535	1:152,081,428	T/G	—	uncertain significance
rs148335014	1:152,081,444	G/C	—	uncertain significance
rs767607780	1:152,081,456	C/G	—	uncertain significance
rs760292203	1:152,081,468	G/A	—	uncertain significance
rs561639762	1:152,081,540	G/A	—	uncertain significance
rs200849544	1:152,081,543	G/T	—	uncertain significance
rs577892955	1:152,081,548	C/T	—	likely benign
rs368649993	1:152,081,550	C/G	—	uncertain significance
rs1438661030	1:152,081,552	G/C	—	likely benign
rs757653726	1:152,081,554	T/C	—	uncertain significance
rs779292167	1:152,081,560	T/A	—	uncertain significance
rs371806397	1:152,081,564	G/C	—	uncertain significance
rs762086070	1:152,081,582	C/T	—	uncertain significance
rs927062906	1:152,081,597	C/G	—	uncertain significance
rs1038018792	1:152,081,605	C/A	—	uncertain significance
rs2496251	1:152,081,632	C/G	—	likely benign
rs780658407	1:152,081,633	G/C	—	uncertain significance
rs375049917	1:152,081,702	G/A	—	uncertain significance
rs769745906	1:152,081,707	C/G	—	uncertain significance
rs1658236857	1:152,081,821	C/T	—	uncertain significance
rs374555062	1:152,081,823	G/A	—	likely benign
rs183540170	1:152,081,825	C/G	—	uncertain significance
rs1658237947	1:152,081,837	A/G	—	uncertain significance
rs142908869	1:152,081,874	T/C	—	likely benign
rs200662790	1:152,081,907	T/C	—	likely benign
rs188287958	1:152,081,928	A/C	—	uncertain significance
rs368802356	1:152,081,935	A/G	—	uncertain significance
rs769035085	1:152,081,944	A/T	—	uncertain significance
rs377259751	1:152,081,986	C/G	—	uncertain significance
rs2526692814	1:152,082,008	G/A	—	uncertain significance
rs753843058	1:152,082,026	G/C	—	uncertain significance
rs766447138	1:152,082,071	G/T	—	uncertain significance
rs1375167739	1:152,082,083	C/T	—	uncertain significance
rs1017322812	1:152,082,118	C/G	—	uncertain significance
rs748569258	1:152,082,119	G/A	—	uncertain significance
rs778061727	1:152,082,196	A/C	—	likely benign
rs762649022	1:152,082,228	T/G	—	uncertain significance
rs755703674	1:152,082,239	G/C	—	uncertain significance
rs184423426	1:152,082,263	C/T	—	uncertain significance
rs1441642960	1:152,082,286	A/C	—	likely benign
rs1658260519	1:152,082,290	C/T	—	uncertain significance
rs367880394	1:152,082,296	G/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.