HDAC6

histone deacetylase 6

Summary

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]

Known Variants88 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs781864550	X:48,661,146	G/A	—	uncertain significance
rs375722411	X:48,661,150	G/C	—	uncertain significance
rs141268593	X:48,661,191	C/G	—	conflicting classifications of pathogenicity
rs147420530	X:48,661,301	C/T	—	likely benign
rs2062751518	X:48,661,332	G/A	—	uncertain significance
rs376875887	X:48,661,360	T/C	—	conflicting classifications of pathogenicity
rs145349858	X:48,661,402	G/C	—	likely benign
rs190360216	X:48,661,525	T/C	—	benign
rs2519379185	X:48,663,851	G/A	—	likely benign
rs782515550	X:48,663,917	C/T	—	likely benign
rs782747542	X:48,664,042	G/A	—	uncertain significance
rs143689285	X:48,664,073	T/C	—	benign
rs372471896	X:48,664,812	A/C	—	likely benign
rs73209760	X:48,664,850	C/T	—	likely benign
rs149790381	X:48,665,051	T/A	—	benign
rs145768118	X:48,665,072	G/A	—	likely benign
rs2519387616	X:48,665,121	T/G	—	likely benign
rs1856627037	X:48,666,488	G/C	—	uncertain significance
rs368394917	X:48,666,553	C/A	—	likely benign
rs2519395932	X:48,666,690	C/T	—	uncertain significance
rs782692797	X:48,666,692	C/T	—	likely benign
rs2147359863	X:48,672,916	G/T	—	uncertain significance
rs147652236	X:48,673,156	G/A	—	likely benign
rs377605184	X:48,673,306	G/C	—	likely benign
rs782701334	X:48,673,420	A/G	—	uncertain significance
rs782037409	X:48,673,426	C/G	—	likely benign
rs145223784	X:48,673,430	C/G	—	uncertain significance
rs2519428771	X:48,673,827	A/G	—	uncertain significance
rs1557027257	X:48,673,891	G/A	—	uncertain significance
rs188264171	X:48,673,894	G/A	—	uncertain significance
rs782145413	X:48,674,298	C/G	—	likely benign
rs201520385	X:48,674,299	G/A	—	uncertain significance
rs150105386	X:48,674,340	C/T	—	benign
rs782675259	X:48,674,579	C/T	—	uncertain significance
rs782506012	X:48,674,592	G/A	—	uncertain significance
rs141938903	X:48,674,614	C/T	—	benign
rs1557027713	X:48,674,919	G/A	—	likely benign
rs782036783	X:48,674,928	A/G	—	likely benign
rs781955760	X:48,675,735	T/G	—	likely benign
rs782073213	X:48,675,741	T/C	—	likely benign
rs782255342	X:48,675,774	C/T	—	benign
rs1252823107	X:48,675,825	G/A	—	likely benign
rs2519445322	X:48,675,835	C/T	—	likely pathogenic
rs368341039	X:48,676,478	C/T	—	likely benign
rs2519449720	X:48,676,508	T/A	—	likely benign
rs1557028401	X:48,676,677	T/C	—	uncertain significance
rs1557028459	X:48,676,722	C/T	—	uncertain significance
rs2075837	X:48,676,839	G/A	—	benign
rs918716649	X:48,681,166	A/G	—	uncertain significance
rs151262020	X:48,681,175	G/A	—	uncertain significance
rs139330641	X:48,681,186	C/T	—	uncertain significance
rs61735967	X:48,681,187	G/A	—	benign
rs782033950	X:48,681,342	C/G	—	uncertain significance
rs201845777	X:48,681,405	C/T	—	conflicting classifications of pathogenicity
rs200639202	X:48,681,406	G/A	—	likely benign
rs1557030620	X:48,681,468	T/C	—	uncertain significance
rs145147896	X:48,681,476	A/G	—	benign
rs1602281084	X:48,681,530	G/A	—	likely benign
rs143030911	X:48,681,595	T/C	—	likely benign
rs148220149	X:48,681,597	G/C	—	likely benign
rs2519479395	X:48,681,637	T/G	—	uncertain significance
rs370891084	X:48,681,639	G/A	—	likely benign
rs1266492898	X:48,681,703	C/T	—	uncertain significance
rs146979948	X:48,681,848	A/G	—	likely benign
rs368186562	X:48,681,860	G/A	—	likely benign
rs1557031010	X:48,681,879	G/C	—	uncertain significance
rs138084502	X:48,681,883	C/T	—	likely benign
rs782560444	X:48,681,896	C/T	—	benign
rs782160694	X:48,681,906	C/G	—	likely benign
rs781933748	X:48,681,909	A/G	—	likely benign
rs781833780	X:48,681,922	A/G	—	uncertain significance
rs367767249	X:48,681,941	A/G	—	conflicting classifications of pathogenicity
rs993813895	X:48,681,954	C/G	—	conflicting classifications of pathogenicity
rs371512851	X:48,681,962	G/A	—	likely benign
rs782023778	X:48,681,964	G/A	—	likely benign
rs147207522	X:48,681,981	C/T	—	likely benign
rs2063122125	X:48,682,082	G/A	—	uncertain significance
rs2519482671	X:48,682,085	G/A	—	uncertain significance
rs782397073	X:48,682,106	G/C	—	likely benign
rs2519482787	X:48,682,109	G/A	—	uncertain significance
rs41312114	X:48,682,140	G/A	—	likely benign
rs184473518	X:48,682,158	C/G	—	uncertain significance
rs2519484123	X:48,682,338	T/C	—	uncertain significance
rs782120256	X:48,682,439	A/G	—	likely benign
rs2519485554	X:48,682,601	G/A	—	uncertain significance
rs144699758	X:48,682,654	A/T	—	uncertain significance
rs782203131	X:48,682,656	C/T	—	likely benign
rs2519488478	X:48,682,999	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.