PRSS56

serine protease 56

Summary

This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]

Known Variants145 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2573210	2:233,385,025	G/A	—	benign
rs116144637	2:233,385,076	C/T	—	likely benign
rs2741294	2:233,385,202	T/C	—	benign
rs2697778	2:233,385,321	G/A	—	benign
rs562504521	2:233,385,339	C/T	—	uncertain significance
rs2469694307	2:233,385,361	A/G	—	uncertain significance
rs1199486833	2:233,385,362	C/T	—	likely benign
rs1407038105	2:233,385,382	G/A	—	uncertain significance
rs1550094	2:233,385,396	G/A	—	benign
rs562029960	2:233,385,423	C/T	—	benign
rs116445642	2:233,385,432	C/T	—	benign
rs79872260	2:233,385,888	C/T	—	benign
rs62193795	2:233,385,968	C/T	—	benign
rs115367581	2:233,385,989	C/G	—	benign
rs1453051850	2:233,386,039	G/A	—	uncertain significance
rs2469695579	2:233,386,041	C/T	—	likely benign
rs959302495	2:233,386,056	G/A	—	likely benign
rs751017393	2:233,386,077	C/T	—	likely benign
rs758558652	2:233,386,078	G/A	—	uncertain significance
rs1048477049	2:233,386,097	G/A	—	uncertain significance
rs899970313	2:233,386,103	C/T	—	uncertain significance
rs1028701908	2:233,386,124	C/T	—	likely benign
rs745845707	2:233,386,129	G/A	—	uncertain significance
rs1574621778	2:233,386,135	C/G	—	uncertain significance
rs77311538	2:233,386,148	C/G	—	benign
rs552107195	2:233,386,152	C/A	—	benign
rs2853444	2:233,386,229	T/C	—	benign
rs2741295	2:233,386,328	C/T	—	benign
rs11902035	2:233,386,432	A/G	—	benign
rs79343328	2:233,386,484	C/T	—	likely benign
rs115590586	2:233,386,531	G/C	—	benign
rs2106200485	2:233,386,540	A/G	—	uncertain significance
rs2853445	2:233,386,583	C/T	—	benign
rs547205012	2:233,386,683	C/G	—	uncertain significance
rs1172770574	2:233,386,707	A/C	—	uncertain significance
rs1025103437	2:233,386,716	G/A	—	conflicting classifications of pathogenicity
rs532767577	2:233,386,727	C/T	—	likely benign
rs549793348	2:233,386,742	G/T	—	likely benign
rs1391877540	2:233,386,747	G/A	—	uncertain significance
rs939077513	2:233,386,759	C/T	—	uncertain significance
rs1430615320	2:233,386,777	G/A	—	pathogenic
rs781427947	2:233,386,781	G/A	—	likely benign
rs2469697547	2:233,386,830	G/A	—	uncertain significance
rs926193653	2:233,386,833	G/A	—	uncertain significance
rs1691292404	2:233,386,842	G/A	—	uncertain significance
rs934780388	2:233,386,853	A/T	—	likely benign
rs577916164	2:233,386,986	C/A	—	likely benign
rs2741297	2:233,387,007	A/G	—	benign
rs1691303432	2:233,387,225	C/A	—	likely benign
rs1446778228	2:233,387,226	G/A	—	uncertain significance
rs1033036363	2:233,387,229	C/T	—	uncertain significance
rs559903766	2:233,387,234	T/G	—	uncertain significance
rs573460708	2:233,387,238	C/T	—	uncertain significance
rs1312714577	2:233,387,240	T/C	—	likely benign
rs1206404822	2:233,387,255	G/C	—	likely benign
rs2106201140	2:233,387,275	G/T	—	uncertain significance
rs536084875	2:233,387,279	G/A	—	benign
rs776684546	2:233,387,295	C/G	—	conflicting classifications of pathogenicity
rs387907096	2:233,387,304	C/G	missense variant	pathogenic
rs759381572	2:233,387,322	A/G	—	uncertain significance
rs114690224	2:233,387,365	A/G	—	likely benign
rs115599535	2:233,387,379	C/T	—	benign
rs190443109	2:233,387,389	C/T	—	likely benign
rs2469699485	2:233,387,436	G/T	—	uncertain significance
rs534508338	2:233,387,465	G/A	—	benign
rs372639355	2:233,387,471	C/T	—	likely benign
rs1304484376	2:233,387,478	G/A	—	uncertain significance
rs891778933	2:233,387,481	T/A	—	uncertain significance
rs1350024375	2:233,387,559	G/T	—	uncertain significance
rs733603	2:233,387,635	G/A	—	benign
rs730882160	2:233,387,772	G/A	missense variant	pathogenic
rs1034582810	2:233,387,796	G/A	—	uncertain significance
rs545607218	2:233,387,802	C/T	—	uncertain significance
rs1574623264	2:233,387,816	C/G	—	likely benign
rs575712686	2:233,387,823	G/A	—	uncertain significance
rs1691322098	2:233,387,829	T/C	—	uncertain significance
rs961191608	2:233,387,877	G/C	—	uncertain significance
rs758815927	2:233,388,129	G/A	—	uncertain significance
rs2469701506	2:233,388,171	C/A	—	uncertain significance
rs778102606	2:233,388,179	G/C	—	uncertain significance
rs74703359	2:233,388,180	G/T	missense variant	uncertain significance
rs387907095	2:233,388,202	G/C	missense variant	pathogenic
rs730882158	2:233,388,234	G/A	missense variant	pathogenic
rs539085160	2:233,388,248	C/A	—	likely benign
rs1691333338	2:233,388,296	C/G	—	likely benign
rs733602	2:233,388,311	T/C	—	benign
rs116397446	2:233,388,322	T/C	—	likely benign
rs1691336380	2:233,388,470	C/T	—	likely benign
rs540536012	2:233,388,488	C/T	—	benign
rs764526661	2:233,388,529	C/G	—	uncertain significance
rs1007273591	2:233,388,530	C/G	—	uncertain significance
rs558877093	2:233,388,533	C/T	—	uncertain significance
rs780669831	2:233,388,535	C/A	—	uncertain significance
rs749731353	2:233,388,547	G/A	—	uncertain significance
rs890861977	2:233,388,559	C/G	—	uncertain significance
rs545056666	2:233,388,560	G/A	—	likely benign
rs2469702828	2:233,388,589	C/T	—	uncertain significance
rs2469703005	2:233,388,644	G/C	—	uncertain significance
rs730882161	2:233,388,652	T/C	missense variant	pathogenic
rs79792358	2:233,388,686	A/G	—	benign

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.