PRPF31

pre-mRNA processing factor 31

Summary

This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]

Known Variants471 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs117225554	19:54,618,776	C/T	—	likely benign
rs75629461	19:54,618,843	C/T	—	likely benign
rs587674748	19:54,618,979	G/A	—	uncertain significance
rs45619231	19:54,618,999	C/A	—	conflicting classifications of pathogenicity
rs587601857	19:54,619,059	G/A	—	uncertain significance
rs17526361	19:54,619,073	G/C	—	uncertain significance
rs886054617	19:54,619,154	A/C	—	uncertain significance
rs373430109	19:54,619,165	G/T	—	likely benign
rs762066202	19:54,619,180	G/A	—	uncertain significance
rs4806711	19:54,619,191	G/A	—	benign
rs36204092	19:54,620,171	T/C	upstream gene variant	—
rs184470284	19:54,620,407	C/T	upstream gene variant	—
rs770061891	19:54,621,653	C/A	—	uncertain significance
rs1555791188	19:54,621,659	A/G	—	pathogenic
rs2146392500	19:54,621,660	T/A	—	pathogenic
rs1600324262	19:54,621,661	G/C	—	pathogenic
rs2516078026	19:54,621,663	C/G	—	uncertain significance
rs2073700497	19:54,621,680	T/C	—	likely benign
rs2146392573	19:54,621,681	T/G	—	pathogenic
rs760236177	19:54,621,691	C/T	—	uncertain significance
rs2516078396	19:54,621,700	A/C	—	likely benign
rs1249610474	19:54,621,703	A/C	—	likely benign
rs201265631	19:54,621,710	G/T	—	pathogenic
rs1279386080	19:54,621,727	T/C	—	likely benign
rs2516079079	19:54,621,740	G/A	—	uncertain significance
rs758451671	19:54,621,747	C/T	—	uncertain significance
rs1399742310	19:54,621,748	A/G	—	likely benign
rs921655639	19:54,621,751	G/A	—	likely benign
rs142560628	19:54,621,754	C/T	—	likely benign
rs781412138	19:54,621,765	A/G	—	uncertain significance
rs2516079669	19:54,621,769	G/A	—	likely benign
rs746256474	19:54,621,771	A/C	—	uncertain significance
rs2516079854	19:54,621,776	C/T	—	pathogenic
rs878853332	19:54,621,779	C/G	—	uncertain significance
rs150968066	19:54,621,790	C/T	—	likely benign
rs2146393039	19:54,621,794	G/A	—	uncertain significance
rs76251057	19:54,621,796	T/C	—	conflicting classifications of pathogenicity
rs2073703461	19:54,621,798	C/A	—	likely pathogenic
rs2516080502	19:54,621,799	A/G	—	likely benign
rs373578680	19:54,621,807	C/T	—	uncertain significance
rs1439576531	19:54,621,823	G/A	—	pathogenic
rs2516081224	19:54,621,836	G/A	—	likely pathogenic
rs368136864	19:54,621,839	A/T	—	conflicting classifications of pathogenicity
rs886054618	19:54,621,842	G/A	—	conflicting classifications of pathogenicity
rs200689074	19:54,621,853	G/C	—	likely benign
rs200561167	19:54,621,934	G/C	—	likely benign
rs2516083089	19:54,621,941	C/G	—	likely benign
rs587752996	19:54,621,945	T/C	—	likely benign
rs2073708638	19:54,621,951	A/G	—	pathogenic
rs2146393934	19:54,621,952	G/A	—	pathogenic
rs2516083297	19:54,621,955	T/C	—	likely benign
rs140412357	19:54,621,957	C/G	—	uncertain significance
rs2146393989	19:54,621,963	T/C	—	uncertain significance
rs145505952	19:54,621,969	T/A	—	uncertain significance
rs1371067824	19:54,621,976	T/C	—	likely benign
rs886054619	19:54,621,982	G/A	—	conflicting classifications of pathogenicity
rs141463671	19:54,621,984	A/G	—	uncertain significance
rs2073709795	19:54,621,992	A/T	—	pathogenic
rs1389305246	19:54,621,995	C/T	—	pathogenic
rs1334884325	19:54,621,999	C/A	—	uncertain significance
rs587774742	19:54,622,000	C/T	—	likely benign
rs779270349	19:54,622,014	G/A	—	pathogenic
rs1555791321	19:54,622,029	C/T	—	likely benign
rs139460996	19:54,622,858	G/A	upstream gene variant	—
rs754008299	19:54,625,222	C/A	—	likely benign
rs113691122	19:54,625,226	C/T	—	benign
rs377086372	19:54,625,227	G/A	—	conflicting classifications of pathogenicity
rs1568586572	19:54,625,231	C/A	—	likely benign
rs1426681224	19:54,625,236	C/G	—	uncertain significance
rs1600334904	19:54,625,237	A/G	—	pathogenic
rs2073798309	19:54,625,238	G/A	—	pathogenic
rs2146409388	19:54,625,244	G/T	—	pathogenic
rs747554145	19:54,625,247	C/G	—	uncertain significance
rs369049017	19:54,625,251	T/C	—	conflicting classifications of pathogenicity
rs768486884	19:54,625,260	C/T	—	uncertain significance
rs373831294	19:54,625,261	G/A	—	likely benign
rs2516116469	19:54,625,265	G/T	—	likely pathogenic
rs376072327	19:54,625,271	C/T	—	uncertain significance
rs759141690	19:54,625,272	G/A	—	uncertain significance
rs776730311	19:54,625,274	G/A	—	uncertain significance
rs759742223	19:54,625,279	C/T	—	likely benign
rs1216526173	19:54,625,280	G/A	—	uncertain significance
rs2146409688	19:54,625,282	G/C	—	likely benign
rs765321941	19:54,625,300	C/T	—	likely benign
rs2516117325	19:54,625,304	G/T	—	likely pathogenic
rs369235066	19:54,625,309	C/T	—	likely benign
rs2073800655	19:54,625,310	G/T	—	likely pathogenic
rs764545115	19:54,625,315	C/T	—	likely benign
rs2516117715	19:54,625,321	G/A	—	uncertain significance
rs2516117809	19:54,625,324	T/G	—	pathogenic
rs1372142127	19:54,625,336	G/A	—	likely benign
rs1234080734	19:54,625,337	G/A	—	likely benign
rs2073801708	19:54,625,338	C/T	—	likely benign
rs200191339	19:54,625,342	C/T	—	benign
rs73062633	19:54,625,765	T/C	—	benign
rs777653030	19:54,625,865	G/A	—	likely benign
rs752268919	19:54,625,868	T/C	—	likely benign
rs758108676	19:54,625,873	T/C	—	uncertain significance
rs2146413207	19:54,625,874	A/G	—	pathogenic
rs2146413215	19:54,625,875	G/C	—	pathogenic

Showing 100 of 471 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.