NR5A1

nuclear receptor subfamily 5 group A member 1

Summary

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

Known Variants213 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10283445	9:127,243,637	A/G	—	benign
rs915034	9:127,244,955	G/A	—	benign
rs146454575	9:127,245,044	T/C	—	uncertain significance
rs2131269144	9:127,245,061	T/C	—	likely benign
rs79833327	9:127,245,070	C/T	—	benign
rs750275592	9:127,245,079	G/A	—	likely benign
rs142188133	9:127,245,109	G/A	—	conflicting classifications of pathogenicity
rs104894120	9:127,245,113	A/T	missense variant	pathogenic
rs2131269186	9:127,245,115	G/C	—	uncertain significance
rs1832149850	9:127,245,116	T/C	—	uncertain significance
rs1285590867	9:127,245,131	A/G	—	uncertain significance
rs568129040	9:127,245,138	G/A	—	benign
rs1026030730	9:127,245,152	A/G	—	uncertain significance
rs140408680	9:127,245,157	G/A	—	conflicting classifications of pathogenicity
rs1424414441	9:127,245,190	G/A	—	likely benign
rs1564146922	9:127,245,196	G/C	—	likely pathogenic
rs2131269262	9:127,245,200	T/G	—	pathogenic
rs2538665084	9:127,245,202	G/T	—	pathogenic
rs863224904	9:127,245,213	A/C	missense variant	pathogenic
rs2538665114	9:127,245,218	A/G	—	uncertain significance
rs764850069	9:127,245,226	G/A	—	likely benign
rs2131269315	9:127,245,239	T/C	—	uncertain significance
rs1057518497	9:127,245,243	G/C	—	uncertain significance
rs200939258	9:127,245,282	A/G	—	likely benign
rs2538665254	9:127,245,283	A/G	—	likely pathogenic
rs2131269372	9:127,245,285	C/A	—	uncertain significance
rs369966754	9:127,245,304	G/A	—	likely benign
rs116575632	9:127,245,396	A/G	—	benign
rs7037254	9:127,245,412	T/C	—	benign
rs115065315	9:127,245,445	G/A	—	likely benign
rs2416933	9:127,245,529	A/G	—	benign
rs915033	9:127,245,558	C/G	—	benign
rs7023736	9:127,247,946	G/A	intron variant	—
rs750025915	9:127,253,316	G/C	—	benign
rs762384009	9:127,253,319	T/C	—	benign
rs1832300085	9:127,253,355	C/T	—	uncertain significance
rs1352867248	9:127,253,370	G/A	—	likely benign
rs2538674039	9:127,253,386	A/C	—	uncertain significance
rs2538674057	9:127,253,399	C/G	—	uncertain significance
rs1564149534	9:127,253,405	G/A	—	uncertain significance
rs2131277629	9:127,253,408	C/A	—	likely pathogenic
rs369097872	9:127,253,419	G/A	—	conflicting classifications of pathogenicity
rs2538674092	9:127,253,423	G/A	—	uncertain significance
rs2131277648	9:127,253,425	A/G	—	likely pathogenic
rs1387520751	9:127,253,427	C/A	—	uncertain significance
rs371701248	9:127,253,435	C/T	—	conflicting classifications of pathogenicity
rs2538674117	9:127,253,437	A/T	—	uncertain significance
rs759071081	9:127,253,446	G/A	—	pathogenic
rs754336683	9:127,253,450	G/A	—	pathogenic
rs375086246	9:127,253,502	C/T	—	likely benign
rs2131277756	9:127,253,508	C/G	—	pathogenic
rs769546363	9:127,253,524	C/T	—	likely benign
rs773032761	9:127,253,525	G/T	—	pathogenic
rs188477234	9:127,253,556	G/A	—	likely benign
rs192922893	9:127,253,668	A/G	—	likely benign
rs184776788	9:127,253,671	A/G	—	likely benign
rs187098744	9:127,255,029	A/G	—	likely benign
rs1588618614	9:127,255,309	C/T	—	likely pathogenic
rs2131279852	9:127,255,316	C/A	—	pathogenic
rs1832340912	9:127,255,317	C/T	—	pathogenic
rs141555967	9:127,255,318	G/T	—	conflicting classifications of pathogenicity
rs2131279881	9:127,255,341	C/A	—	pathogenic
rs147024762	9:127,255,348	G/A	—	likely benign
rs201103618	9:127,255,357	C/G	—	uncertain significance
rs2538676331	9:127,255,359	G/A	—	likely pathogenic
rs1554721235	9:127,255,361	C/T	—	pathogenic
rs1057517779	9:127,255,362	G/A	missense variant	pathogenic
rs376707580	9:127,255,375	G/A	—	likely benign
rs745564225	9:127,255,389	C/T	—	uncertain significance
rs185071408	9:127,255,390	G/T	—	likely pathogenic
rs2538676383	9:127,255,391	C/T	—	likely pathogenic
rs1832341711	9:127,255,392	T/G	—	uncertain significance
rs1564150329	9:127,255,404	G/A	—	pathogenic
rs2538676433	9:127,255,419	G/C	—	uncertain significance
rs121918655	9:127,255,422	C/T	missense variant	pathogenic
rs550028067	9:127,255,423	G/A	—	likely benign
rs2538676471	9:127,255,429	C/G	—	pathogenic
rs189724865	9:127,255,441	G/A	—	benign
rs763448343	9:127,255,445	C/T	—	likely benign
rs2297605	9:127,255,448	A/G	—	benign
rs183899273	9:127,255,526	A/G	—	likely benign
rs116836172	9:127,255,614	A/G	—	likely benign
rs367744822	9:127,262,352	C/T	—	likely benign
rs1174492085	9:127,262,361	A/G	—	likely benign
rs2538683535	9:127,262,368	C/T	—	likely pathogenic
rs2538683556	9:127,262,391	C/T	—	likely pathogenic
rs2538683564	9:127,262,398	G/A	—	pathogenic
rs1064794281	9:127,262,404	A/T	missense variant	pathogenic
rs1270307085	9:127,262,419	T/C	—	uncertain significance
rs964393137	9:127,262,431	C/T	—	likely pathogenic
rs747689798	9:127,262,439	C/T	—	uncertain significance
rs755558587	9:127,262,446	G/A	—	likely benign
rs566939634	9:127,262,453	G/A	—	likely benign
rs374900251	9:127,262,459	C/T	—	likely benign
rs529716231	9:127,262,462	C/T	—	benign
rs148356103	9:127,262,463	G/A	—	uncertain significance
rs141502483	9:127,262,470	C/T	—	uncertain significance
rs765394585	9:127,262,474	G/A	—	likely benign
rs104894118	9:127,262,475	C/A	missense variant	pathogenic
rs766248393	9:127,262,485	T/C	—	uncertain significance

Showing 100 of 213 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.