TUBB4A

tubulin beta 4A class IVa

Summary

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

Known Variants263 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140030420	19:6,494,319	C/T	—	likely benign
rs1053395	19:6,494,371	G/C	—	benign
rs781702991	19:6,494,375	C/T	—	uncertain significance
rs1914007188	19:6,494,383	G/A	—	uncertain significance
rs370034465	19:6,494,450	C/T	—	benign
rs73920690	19:6,494,475	A/T	—	benign
rs1053377	19:6,494,502	C/T	—	benign
rs74383079	19:6,494,542	G/T	—	benign
rs1469859932	19:6,494,548	T/G	—	uncertain significance
rs143637409	19:6,494,596	G/A	—	uncertain significance
rs111966371	19:6,494,682	G/C	—	benign
rs886054651	19:6,494,735	G/A	—	uncertain significance
rs567346964	19:6,494,746	G/A	—	benign
rs8113500	19:6,494,775	C/T	—	benign
rs1914042322	19:6,494,871	G/A	—	uncertain significance
rs3099129	19:6,494,915	G/C	—	benign
rs446199	19:6,495,064	G/C	—	benign
rs528792394	19:6,495,075	C/T	—	benign
rs449824	19:6,495,079	G/C	—	benign
rs867164852	19:6,495,089	C/T	—	uncertain significance
rs564748070	19:6,495,106	G/C	—	benign
rs113953942	19:6,495,122	C/T	—	likely benign
rs759397360	19:6,495,139	G/C	—	benign
rs150446118	19:6,495,172	A/G	—	benign
rs371914924	19:6,495,179	G/A	—	uncertain significance
rs751733505	19:6,495,181	C/T	—	conflicting classifications of pathogenicity
rs201070507	19:6,495,193	C/A	—	likely benign
rs199569370	19:6,495,194	G/T	—	uncertain significance
rs369467354	19:6,495,199	C/T	—	likely benign
rs768064651	19:6,495,205	G/A	—	likely benign
rs142792302	19:6,495,211	G/A	—	likely benign
rs377109175	19:6,495,220	G/A	—	likely benign
rs2512751529	19:6,495,221	G/T	—	uncertain significance
rs61731566	19:6,495,223	C/T	—	likely benign
rs149205820	19:6,495,229	G/A	—	likely benign
rs2512751593	19:6,495,234	G/C	—	uncertain significance
rs1914081211	19:6,495,270	T/A	—	likely pathogenic
rs587777428	19:6,495,282	C/T	missense variant	pathogenic
rs779011957	19:6,495,294	T/A	—	uncertain significance
rs745756691	19:6,495,297	C/T	—	uncertain significance
rs764126765	19:6,495,304	G/A	—	likely benign
rs149366909	19:6,495,310	G/A	—	likely benign
rs2512751841	19:6,495,312	C/T	—	uncertain significance
rs1568409099	19:6,495,313	C/T	—	likely benign
rs1233811169	19:6,495,314	G/A	—	uncertain significance
rs886041022	19:6,495,329	A/G	missense variant	pathogenic
rs1914085591	19:6,495,332	G/A	—	likely pathogenic
rs886041021	19:6,495,338	C/A	missense variant	pathogenic
rs797045074	19:6,495,346	C/G	missense variant	pathogenic
rs886041020	19:6,495,347	A/G	missense variant	pathogenic
rs886041019	19:6,495,348	T/C	missense variant	pathogenic
rs2145243085	19:6,495,350	G/T	—	uncertain significance
rs1914088089	19:6,495,355	G/T	—	uncertain significance
rs545249557	19:6,495,364	G/A	—	likely benign
rs774757859	19:6,495,371	C/A	—	uncertain significance
rs1301050044	19:6,495,379	C/T	—	likely benign
rs1914091400	19:6,495,385	C/T	—	likely benign
rs756244875	19:6,495,406	G/A	—	likely benign
rs886041018	19:6,495,411	A/T	missense variant	likely pathogenic
rs148507956	19:6,495,415	C/T	—	likely benign
rs750399286	19:6,495,417	C/T	—	uncertain significance
rs142838372	19:6,495,418	G/A	—	likely benign
rs886041017	19:6,495,419	G/T	missense variant	not provided
rs754708290	19:6,495,430	G/T	—	likely benign
rs1914098025	19:6,495,432	C/G	—	uncertain significance
rs370390509	19:6,495,433	G/A	—	likely benign
rs2512752258	19:6,495,436	G/A	—	likely benign
rs146148489	19:6,495,439	C/T	—	likely benign
rs1599405952	19:6,495,445	G/T	—	likely pathogenic
rs748787734	19:6,495,448	G/C	—	likely pathogenic
rs886041016	19:6,495,449	C/T	missense variant	not provided
rs2512752293	19:6,495,450	A/T	—	uncertain significance
rs886041015	19:6,495,456	C/T	missense variant	uncertain significance
rs143924894	19:6,495,457	C/T	—	likely benign
rs1914101190	19:6,495,461	T/G	—	likely pathogenic
rs772279696	19:6,495,465	C/T	—	uncertain significance
rs111274574	19:6,495,466	G/A	—	likely benign
rs1914102414	19:6,495,472	G/T	—	likely benign
rs1555753916	19:6,495,480	A/G	—	uncertain significance
rs1914103761	19:6,495,481	C/T	—	likely benign
rs754036226	19:6,495,486	C/T	—	uncertain significance
rs1914104455	19:6,495,489	A/G	—	likely pathogenic
rs1914105777	19:6,495,512	A/G	—	uncertain significance
rs191830566	19:6,495,514	G/A	—	likely benign
rs2512752568	19:6,495,528	C/T	—	uncertain significance
rs886041014	19:6,495,542	A/C	missense variant	uncertain significance
rs1914108021	19:6,495,552	G/A	—	uncertain significance
rs1914108209	19:6,495,556	C/G	—	likely benign
rs2512752665	19:6,495,557	C/T	—	uncertain significance
rs1318704034	19:6,495,565	G/T	—	likely benign
rs199608353	19:6,495,568	G/A	—	likely benign
rs886041013	19:6,495,569	G/A	missense variant	pathogenic
rs373207358	19:6,495,574	G/A	—	likely benign
rs775775230	19:6,495,580	G/A	—	likely benign
rs1386587020	19:6,495,585	G/A	—	uncertain significance
rs118102196	19:6,495,589	G/A	—	benign
rs149903666	19:6,495,595	C/T	—	conflicting classifications of pathogenicity
rs1338934761	19:6,495,596	G/A	—	uncertain significance
rs1282533762	19:6,495,601	G/A	—	likely benign
rs144969662	19:6,495,604	C/T	—	likely benign

Showing 100 of 263 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.