HSD17B10

hydroxysteroid 17-beta dehydrogenase 10

Summary

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

Known Variants151 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2521087320	X:53,457,888	T/A	—	uncertain significance
rs782410328	X:53,458,343	C/G	—	uncertain significance
rs2146627549	X:53,458,366	G/A	—	uncertain significance
rs2075824424	X:53,458,385	G/C	—	likely pathogenic
rs1556894480	X:53,458,388	G/A	—	likely benign
rs62626305	X:53,458,393	C/G	missense variant	uncertain significance
rs880001273	X:53,458,397	A/G	—	likely benign
rs122461163	X:53,458,398	T/C	missense variant	pathogenic
rs2521092017	X:53,458,407	G/T	—	uncertain significance
rs782119770	X:53,458,415	G/A	—	likely benign
rs1556894495	X:53,458,427	T/C	—	likely benign
rs1370750298	X:53,458,429	C/T	—	uncertain significance
rs782783783	X:53,458,430	G/A	—	likely benign
rs2521092158	X:53,458,432	G/A	—	likely pathogenic
rs782156100	X:53,458,445	A/T	—	likely benign
rs931676673	X:53,458,453	C/T	—	uncertain significance
rs1556894502	X:53,458,461	C/T	—	pathogenic
rs2075824833	X:53,458,472	G/A	—	likely benign
rs1602426334	X:53,458,478	T/G	—	uncertain significance
rs2521092744	X:53,458,502	T/C	—	likely benign
rs886041974	X:53,458,504	T/C	missense variant	pathogenic
rs2521092831	X:53,458,510	G/C	—	likely pathogenic
rs1255652783	X:53,458,538	C/G	—	uncertain significance
rs2075825203	X:53,458,550	A/G	—	likely benign
rs2521093183	X:53,458,553	T/C	—	likely benign
rs782594199	X:53,458,555	G/A	—	likely benign
rs1556894522	X:53,458,561	T/A	—	likely benign
rs2521094336	X:53,458,734	G/A	—	likely benign
rs2521094375	X:53,458,738	A/G	—	likely benign
rs886037927	X:53,458,749	G/T	missense variant	pathogenic
rs122462164	X:53,458,767	G/T	synonymous variant	pathogenic
rs2146627904	X:53,458,796	A/C	—	uncertain significance
rs2075826144	X:53,458,798	G/A	—	likely benign
rs782388358	X:53,458,810	G/T	—	likely benign
rs1602426573	X:53,458,824	C/G	—	likely pathogenic
rs2146627918	X:53,458,833	C/T	—	uncertain significance
rs2075826259	X:53,458,843	A/C	—	likely benign
rs2075826281	X:53,458,853	A/G	—	uncertain significance
rs374264193	X:53,458,860	G/A	—	likely benign
rs2521095044	X:53,458,864	G/C	—	likely benign
rs782609456	X:53,458,867	T/C	—	likely benign
rs1556894569	X:53,458,869	G/T	—	likely benign
rs1273677660	X:53,458,870	A/G	—	likely benign
rs2521095162	X:53,458,872	G/A	—	likely benign
rs1556894578	X:53,458,917	C/T	—	likely benign
rs190913381	X:53,458,927	C/T	—	likely benign
rs949464841	X:53,458,933	C/T	—	uncertain significance
rs1161789651	X:53,458,942	C/T	—	uncertain significance
rs2075826714	X:53,458,945	G/A	—	likely benign
rs2146627999	X:53,458,967	T/C	—	uncertain significance
rs182999706	X:53,458,969	G/A	—	likely benign
rs2521095913	X:53,458,972	G/A	—	likely benign
rs781883925	X:53,458,978	C/G	—	likely benign
rs1064794694	X:53,458,983	G/A	missense variant	pathogenic
rs2075826960	X:53,459,006	T/C	—	uncertain significance
rs2146628049	X:53,459,013	C/T	—	uncertain significance
rs2521096231	X:53,459,021	C/G	—	uncertain significance
rs28935475	X:53,459,034	G/A	missense variant	pathogenic
rs2146628065	X:53,459,037	T/C	—	uncertain significance
rs2521096456	X:53,459,042	T/C	—	likely pathogenic
rs2075827120	X:53,459,055	T/G	—	likely benign
rs797045616	X:53,459,056	G/A	—	uncertain significance
rs28935476	X:53,459,058	G/C	missense variant	pathogenic
rs1249861437	X:53,459,075	G/C	—	likely benign
rs782644415	X:53,459,077	T/C	—	likely benign
rs2521096817	X:53,459,079	G/A	—	likely benign
rs781979081	X:53,459,184	C/T	—	likely benign
rs1431860249	X:53,459,195	A/G	—	likely benign
rs782087883	X:53,459,198	A/T	—	likely benign
rs2521097701	X:53,459,203	C/T	—	uncertain significance
rs782357172	X:53,459,205	C/T	—	uncertain significance
rs2075827834	X:53,459,219	C/G	—	uncertain significance
rs1569365787	X:53,459,222	G/C	—	likely benign
rs782143488	X:53,459,229	G/A	—	conflicting classifications of pathogenicity
rs2521097949	X:53,459,234	G/T	—	likely benign
rs2075827990	X:53,459,238	T/G	—	likely benign
rs1416406199	X:53,459,245	A/G	—	likely benign
rs1395975082	X:53,459,249	G/A	—	likely benign
rs1840417696	X:53,459,252	C/T	—	likely benign
rs2521098107	X:53,459,253	G/A	—	uncertain significance
rs2075828065	X:53,459,259	C/A	—	uncertain significance
rs2521098161	X:53,459,264	C/T	—	likely benign
rs965610533	X:53,459,266	C/T	—	conflicting classifications of pathogenicity
rs1452727816	X:53,459,267	C/T	—	likely benign
rs781916823	X:53,459,268	G/A	—	uncertain significance
rs201378370	X:53,459,269	C/T	—	benign
rs1556894661	X:53,459,273	G/A	—	likely benign
rs1569365820	X:53,459,276	T/G	—	likely benign
rs782330394	X:53,459,279	A/G	—	likely benign
rs371014686	X:53,459,293	C/T	—	conflicting classifications of pathogenicity
rs587777651	X:53,459,295	T/C	missense variant	pathogenic
rs1211736877	X:53,459,299	C/T	—	uncertain significance
rs2146628349	X:53,459,309	C/G	—	uncertain significance
rs2521098571	X:53,459,312	T/G	—	likely benign
rs781891910	X:53,459,313	C/G	—	likely benign
rs781966115	X:53,459,319	G/C	—	uncertain significance
rs374438347	X:53,459,329	G/C	—	conflicting classifications of pathogenicity
rs794729644	X:53,459,334	G/C	—	uncertain significance
rs1343698835	X:53,459,351	A/G	—	likely benign
rs782466620	X:53,459,357	C/T	—	likely benign

Showing 100 of 151 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.