HSPA1L

heat shock protein family A (Hsp70) member 1 like

Summary

This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]

Known Variants57 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs553414	6:31,777,192	A/T	—	—
rs150873641	6:31,777,832	C/T	—	uncertain significance
rs370564561	6:31,777,841	T/C	—	uncertain significance
rs768651596	6:31,777,919	T/C	—	uncertain significance
rs2075800	6:31,777,946	C/T	missense variant	benign
rs1208238536	6:31,778,004	C/A	—	uncertain significance
rs939012192	6:31,778,032	A/G	—	uncertain significance
rs2227955	6:31,778,077	T/G	—	benign
rs554869938	6:31,778,131	G/A	—	uncertain significance
rs755297837	6:31,778,162	C/T	—	uncertain significance
rs2227956	6:31,778,272	G/A	missense variant	benign
rs773948561	6:31,778,284	T/C	—	uncertain significance
rs548364201	6:31,778,299	G/A	—	uncertain significance
rs2227957	6:31,778,307	G/A	—	benign
rs482145	6:31,778,314	G/A	—	benign
rs758754760	6:31,778,320	T/A	—	uncertain significance
rs35347921	6:31,778,322	G/A	—	benign
rs571792102	6:31,778,435	C/T	—	uncertain significance
rs199726010	6:31,778,436	G/C	—	likely benign
rs751809556	6:31,778,437	G/A	—	uncertain significance
rs2075799	6:31,778,529	C/T	synonymous variant	benign
rs1428221917	6:31,778,641	G/A	—	uncertain significance
rs1815363921	6:31,778,684	A/C	—	uncertain significance
rs199780750	6:31,778,697	C/G	—	likely benign
rs1302824566	6:31,778,734	A/G	—	uncertain significance
rs2481035226	6:31,778,759	C/A	—	uncertain significance
rs941324389	6:31,778,810	C/A	—	uncertain significance
rs35326839	6:31,778,831	A/G	—	benign
rs989377237	6:31,778,876	C/T	—	uncertain significance
rs34620296	6:31,778,948	C/T	—	benign
rs139868987	6:31,778,950	G/A	—	association
rs142416335	6:31,778,966	C/T	—	uncertain significance
rs199646393	6:31,778,971	C/T	—	uncertain significance
rs116768554	6:31,779,003	C/T	—	likely benign
rs147868862	6:31,779,020	C/A	—	uncertain significance
rs2481036743	6:31,779,100	C/T	—	uncertain significance
rs1232357390	6:31,779,140	C/T	—	uncertain significance
rs201198988	6:31,779,166	C/T	—	likely benign
rs776550285	6:31,779,181	C/G	—	likely benign
rs2481037161	6:31,779,190	A/C	—	uncertain significance
rs138274398	6:31,779,214	G/A	—	uncertain significance
rs145104527	6:31,779,250	G/T	—	uncertain significance
rs34372373	6:31,779,330	A/G	—	benign
rs1345541682	6:31,779,400	T/C	—	uncertain significance
rs760220858	6:31,779,491	C/A	—	conflicting classifications of pathogenicity
rs368138379	6:31,779,521	C/T	—	association
rs2481039194	6:31,779,568	A/T	—	uncertain significance
rs1459435022	6:31,779,589	C/G	—	uncertain significance
rs775886586	6:31,779,609	T/C	—	likely benign
rs373639301	6:31,779,637	C/T	—	uncertain significance
rs745365008	6:31,779,656	C/T	—	uncertain significance
rs1298381462	6:31,779,659	T/C	—	uncertain significance
rs1419211674	6:31,779,681	G/C	—	uncertain significance
rs1279739765	6:31,779,682	A/G	—	uncertain significance
rs1265682797	6:31,779,716	C/T	—	uncertain significance
rs9469057	6:31,779,728	C/G	—	benign
rs1369180706	6:31,779,741	A/C	—	likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.