BTD

biotinidase

Summary

The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]

Known Variants553 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2019160	3:15,643,043	A/G	—	benign
rs2279841	3:15,643,175	G/A	—	benign
rs7626148	3:15,643,220	G/C	—	likely benign
rs2471195192	3:15,643,250	G/T	—	uncertain significance
rs774964227	3:15,643,270	C/T	—	conflicting classifications of pathogenicity
rs184480128	3:15,643,313	C/T	—	uncertain significance
rs114567021	3:15,643,324	C/T	—	likely benign
rs755119589	3:15,643,331	G/T	—	uncertain significance
rs200884349	3:15,643,344	G/A	—	uncertain significance
rs199516128	3:15,643,353	G/T	—	uncertain significance
rs1553646820	3:15,643,358	A/G	—	uncertain significance
rs768258310	3:15,643,359	T/A	—	uncertain significance
rs1553646827	3:15,643,360	G/A	—	uncertain significance
rs527263093	3:15,643,367	G/T	—	uncertain significance
rs374044613	3:15,643,372	T/C	—	likely benign
rs540641302	3:15,643,373	A/T	—	uncertain significance
rs138473616	3:15,643,380	G/A	—	uncertain significance
rs2471197969	3:15,643,388	C/G	—	uncertain significance
rs2125312689	3:15,643,390	C/T	—	likely benign
rs2064259477	3:15,643,394	A/T	—	uncertain significance
rs781354864	3:15,643,396	G/A	—	likely benign
rs143058480	3:15,643,400	A/G	missense variant	uncertain significance
rs1057516440	3:15,643,402	G/T	—	pathogenic
rs745648160	3:15,643,403	T/C	—	likely pathogenic
rs780115477	3:15,643,405	C/A	—	uncertain significance
rs1453269936	3:15,643,408	A/C	—	likely benign
rs1339722871	3:15,643,409	G/C	—	likely benign
rs563797222	3:15,643,412	G/A	—	likely benign
rs531981188	3:15,643,414	C/G	—	benign
rs767315470	3:15,643,417	G/A	—	likely benign
rs373344768	3:15,643,421	C/A	—	likely benign
rs115287362	3:15,643,482	A/C	—	benign
rs73817023	3:15,643,691	G/A	—	benign
rs7651039	3:15,648,004	T/A	—	—
rs56263384	3:15,661,171	A/G	intron variant	—
rs2471374374	3:15,668,524	C/T	—	uncertain significance
rs2455915	3:15,668,906	T/A	intron variant	—
rs11915606	3:15,675,162	T/G	intron variant	—
rs6773959	3:15,676,662	G/C	—	benign
rs1314203021	3:15,676,912	T/C	—	likely benign
rs754068985	3:15,676,924	A/G	—	likely benign
rs766217655	3:15,676,926	T/C	—	likely benign
rs1243427154	3:15,676,929	A/G	—	uncertain significance
rs1385046880	3:15,676,946	T/C	—	likely benign
rs754794170	3:15,676,951	C/T	—	uncertain significance
rs2471438647	3:15,676,960	G/T	—	uncertain significance
rs921977208	3:15,676,979	C/A	—	uncertain significance
rs141131444	3:15,676,984	G/T	—	uncertain significance
rs201564216	3:15,676,985	C/T	—	likely benign
rs119103232	3:15,676,986	G/A	missense variant	pathogenic
rs201823743	3:15,676,994	C/G	—	pathogenic
rs772369148	3:15,676,995	G/A	—	uncertain significance
rs2471439557	3:15,677,004	C/T	—	likely benign
rs2471439603	3:15,677,005	T/C	—	likely pathogenic
rs761112772	3:15,677,010	G/C	—	uncertain significance
rs146011150	3:15,677,014	A/G	missense variant	pathogenic
rs765550405	3:15,677,018	C/T	—	likely benign
rs34885143	3:15,677,019	G/A	missense variant	pathogenic
rs397514336	3:15,677,022	G/T	stop gained	pathogenic
rs530566306	3:15,677,027	G/A	—	likely benign
rs144654790	3:15,677,030	C/T	—	likely benign
rs2471440279	3:15,677,042	T/C	—	likely benign
rs397514337	3:15,677,045	C/T	synonymous variant	likely benign
rs397514338	3:15,677,046	G/T	stop gained	—
rs1020171739	3:15,677,049	G/A	—	uncertain significance
rs397514339	3:15,677,057	T/G	stop gained	pathogenic
rs2471440561	3:15,677,059	A/G	—	uncertain significance
rs2125453888	3:15,677,060	T/C	—	likely benign
rs747945967	3:15,677,069	C/T	—	likely benign
rs397507170	3:15,677,070	G/A	missense variant	pathogenic
rs780281959	3:15,677,071	T/C	—	likely pathogenic
rs2125453999	3:15,677,075	T/C	—	likely benign
rs397514340	3:15,677,076	G/A	missense variant	—
rs397514436	3:15,677,078	G/C	missense variant	pathogenic
rs397514341	3:15,677,080	A/G	missense variant	pathogenic
rs778785164	3:15,677,082	C/A	—	uncertain significance
rs747489101	3:15,677,086	C/G	—	uncertain significance
rs2471441188	3:15,677,087	C/T	—	likely benign
rs114092911	3:15,677,088	A/G	—	likely benign
rs397514333	3:15,677,098	T/C	missense variant	pathogenic
rs1165906787	3:15,677,107	T/C	—	uncertain significance
rs763118135	3:15,677,109	G/T	—	uncertain significance
rs1060499720	3:15,677,110	C/A	—	uncertain significance
rs104893687	3:15,677,121	C/T	missense variant	pathogenic
rs397514343	3:15,677,122	G/A	missense variant	pathogenic
rs2471442126	3:15,677,123	C/G	—	likely benign
rs2065326975	3:15,677,125	A/C	—	uncertain significance
rs764016239	3:15,677,126	A/G	—	likely benign
rs753816877	3:15,677,129	G/A	—	likely benign
rs397507171	3:15,677,131	C/T	missense variant	pathogenic
rs756703905	3:15,677,133	T/C	—	likely benign
rs397514347	3:15,677,134	T/C	missense variant	pathogenic
rs2125454784	3:15,677,141	C/T	—	uncertain significance
rs1553652148	3:15,677,142	A/G	—	uncertain significance
rs587783002	3:15,677,143	T/G	missense variant	pathogenic
rs147057169	3:15,677,147	C/T	—	conflicting classifications of pathogenicity
rs151071780	3:15,677,148	C/G	missense variant	uncertain significance
rs781457122	3:15,677,150	G/A	—	likely benign
rs397514348	3:15,677,164	A/G	missense variant	pathogenic
rs1169489990	3:15,677,165	T/C	—	likely benign

Showing 100 of 553 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.