CRX

cone-rod homeobox

Summary

The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

Known Variants379 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10418215	19:48,325,187	T/C	—	benign
rs886054543	19:48,325,248	C/T	—	uncertain significance
rs755040084	19:48,325,257	C/T	—	uncertain significance
rs531267959	19:48,325,264	G/C	—	likely benign
rs563948700	19:48,329,020	T/C	—	—
rs4801737	19:48,337,516	T/C	—	benign
rs3760817	19:48,337,546	A/G	—	benign
rs1568624071	19:48,337,672	T/A	—	likely benign
rs762715327	19:48,337,708	C/T	—	uncertain significance
rs140766502	19:48,337,709	G/A	—	likely benign
rs1211313175	19:48,337,711	A/G	—	uncertain significance
rs558522333	19:48,337,720	C/T	—	uncertain significance
rs772745666	19:48,337,721	G/A	—	likely benign
rs146240568	19:48,337,722	G/C	—	conflicting classifications of pathogenicity
rs2123738269	19:48,337,725	C/T	—	uncertain significance
rs139340178	19:48,337,728	C/G	—	conflicting classifications of pathogenicity
rs754630141	19:48,337,729	A/G	—	uncertain significance
rs752458888	19:48,337,737	G/C	—	conflicting classifications of pathogenicity
rs774344094	19:48,337,742	C/A	—	uncertain significance
rs559181643	19:48,337,743	G/C	—	uncertain significance
rs747167744	19:48,337,752	C/T	—	likely benign
rs769017861	19:48,337,760	C/G	—	uncertain significance
rs886054544	19:48,337,778	G/A	—	uncertain significance
rs2123738329	19:48,337,781	C/T	—	likely benign
rs781577708	19:48,337,783	A/G	—	uncertain significance
rs2514250194	19:48,337,785	G/A	—	uncertain significance
rs2514250200	19:48,337,789	T/A	—	uncertain significance
rs878853384	19:48,337,801	G/C	—	uncertain significance
rs281865198	19:48,337,802	T/G	—	pathogenic
rs1568624171	19:48,337,803	G/C	—	uncertain significance
rs1568624185	19:48,337,805	G/A	—	uncertain significance
rs375411321	19:48,337,808	C/T	—	likely benign
rs62128766	19:48,337,812	C/T	—	benign
rs770361425	19:48,337,813	G/A	—	likely benign
rs62128767	19:48,337,897	G/A	—	benign
rs3745752	19:48,339,300	T/C	—	benign
rs2123739726	19:48,339,353	A/G	—	benign
rs281865200	19:48,339,435	A/T	—	not provided
rs281865199	19:48,339,487	C/G	—	not provided
rs73941294	19:48,339,488	A/G	—	benign
rs1375433101	19:48,339,490	C/T	—	likely benign
rs781316943	19:48,339,494	C/T	—	likely benign
rs1968115710	19:48,339,499	G/T	—	pathogenic
rs139778328	19:48,339,501	C/T	—	likely benign
rs886054545	19:48,339,504	C/A	—	uncertain significance
rs2514252109	19:48,339,505	C/T	—	uncertain significance
rs193920917	19:48,339,506	C/A	—	uncertain significance
rs2123739849	19:48,339,508	A/C	—	likely benign
rs749738655	19:48,339,517	C/T	—	pathogenic
rs771450991	19:48,339,518	G/A	—	pathogenic
rs104894672	19:48,339,520	C/T	missense variant	pathogenic
rs61748436	19:48,339,521	G/A	missense variant	pathogenic
rs181068147	19:48,339,522	G/A	—	likely benign
rs863224863	19:48,339,523	G/A	missense variant	pathogenic
rs1437021651	19:48,339,526	C/T	—	pathogenic
rs771736389	19:48,339,527	G/A	—	pathogenic
rs775065439	19:48,339,528	C/T	—	likely benign
rs2514252159	19:48,339,532	A/G	—	uncertain significance
rs199607129	19:48,339,537	C/T	—	likely benign
rs1939392843	19:48,339,538	A/C	—	uncertain significance
rs1203670123	19:48,339,539	C/T	—	uncertain significance
rs761797993	19:48,339,541	C/T	—	uncertain significance
rs765302774	19:48,339,542	G/A	—	uncertain significance
rs1441890796	19:48,339,550	C/T	—	likely benign
rs767773596	19:48,339,558	G/A	—	likely benign
rs1968117124	19:48,339,564	G/A	—	likely benign
rs61748437	19:48,339,565	G/A	—	likely pathogenic
rs1325090607	19:48,339,576	C/T	—	likely benign
rs1599985527	19:48,339,581	C/T	—	uncertain significance
rs527236062	19:48,339,592	G/C	missense variant	pathogenic
rs757731373	19:48,339,594	C/T	—	likely benign
rs61748438	19:48,339,595	G/T	—	uncertain significance
rs2514252308	19:48,339,597	C/T	—	likely benign
rs145649717	19:48,339,602	C/T	—	likely benign
rs771551785	19:48,339,604	C/T	—	pathogenic
rs775073228	19:48,339,605	G/A	—	pathogenic
rs1206525536	19:48,339,610	G/A	—	uncertain significance
rs185420673	19:48,339,612	G/A	—	likely benign
rs2123739992	19:48,339,615	G/A	—	likely benign
rs1568624864	19:48,339,624	G/T	—	uncertain significance
rs2123740000	19:48,339,625	A/T	—	uncertain significance
rs1308505830	19:48,339,631	C/T	—	benign
rs62654391	19:48,339,637	G/A	—	pathogenic
rs104894671	19:48,339,638	A/C	missense variant	pathogenic
rs1968118313	19:48,339,639	G/A	—	likely benign
rs773348946	19:48,339,659	G/C	—	likely benign
rs12985683	19:48,339,854	T/A	—	benign
rs60934372	19:48,342,295	G/A	—	benign
rs59657689	19:48,342,335	T/C	—	benign
rs59440203	19:48,342,342	C/T	—	benign
rs8100405	19:48,342,364	G/C	—	benign
rs281865201	19:48,342,559	T/A	—	not provided
rs372605680	19:48,342,561	C/T	—	likely benign
rs145805694	19:48,342,562	G/A	—	conflicting classifications of pathogenicity
rs199991284	19:48,342,566	T/C	—	likely benign
rs754128724	19:48,342,570	C/G	—	uncertain significance
rs1236144990	19:48,342,576	G/T	—	uncertain significance
rs1968160766	19:48,342,582	G/C	—	uncertain significance
rs1968160874	19:48,342,586	A/G	—	uncertain significance
rs1001151383	19:48,342,587	A/G	—	pathogenic

Showing 100 of 379 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.