CABP4

calcium binding protein 4

Summary

This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Known Variants330 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs79731748	11:67,218,012	C/G	downstream gene variant	—
rs79423227	11:67,220,015	C/T	—	benign
rs1790761	11:67,221,854	T/A	—	—
rs1790763	11:67,222,605	A/C	—	benign
rs192302421	11:67,222,868	G/A	—	uncertain significance
rs779246075	11:67,222,898	A/G	—	uncertain significance
rs143494300	11:67,222,904	G/C	—	conflicting classifications of pathogenicity
rs772573693	11:67,222,909	G/T	—	uncertain significance
rs1864729510	11:67,222,915	G/C	—	uncertain significance
rs1864730015	11:67,222,918	G/A	—	likely benign
rs2495633698	11:67,222,930	A/G	—	likely benign
rs1216850071	11:67,222,936	G/C	—	likely benign
rs1864731241	11:67,222,940	A/G	—	uncertain significance
rs773598642	11:67,222,941	T/C	—	conflicting classifications of pathogenicity
rs149824393	11:67,222,944	G/C	—	benign
rs770541032	11:67,222,946	C/T	—	uncertain significance
rs140245752	11:67,222,947	G/A	—	benign
rs1864732777	11:67,222,953	A/G	—	uncertain significance
rs1159457998	11:67,222,958	C/G	—	uncertain significance
rs1347123314	11:67,222,959	C/T	—	uncertain significance
rs371921931	11:67,222,962	C/G	—	uncertain significance
rs775292545	11:67,222,963	G/A	—	conflicting classifications of pathogenicity
rs762657214	11:67,222,966	G/C	—	uncertain significance
rs1455035481	11:67,222,967	G/A	—	uncertain significance
rs2135171897	11:67,222,968	T/C	—	uncertain significance
rs786205852	11:67,222,975	—	—	pathogenic
rs1266519334	11:67,222,980	A/G	—	uncertain significance
rs1241405087	11:67,222,981	G/A	—	likely benign
rs536552621	11:67,222,996	G/A	—	conflicting classifications of pathogenicity
rs1864737028	11:67,222,999	C/T	—	likely benign
rs766418692	11:67,223,001	C/G	—	uncertain significance
rs375066051	11:67,223,002	G/A	—	likely benign
rs535063854	11:67,223,003	T/C	—	likely benign
rs1158722137	11:67,223,007	C/T	—	uncertain significance
rs1590999097	11:67,223,023	G/A	—	likely benign
rs1382361265	11:67,223,031	G/C	—	uncertain significance
rs778249055	11:67,223,033	G/C	—	uncertain significance
rs747441168	11:67,223,037	T/A	—	uncertain significance
rs199636248	11:67,223,039	C/T	—	pathogenic
rs1230945153	11:67,223,040	G/A	—	uncertain significance
rs745382789	11:67,223,048	C/T	—	pathogenic
rs145789542	11:67,223,049	G/A	—	conflicting classifications of pathogenicity
rs2135172674	11:67,223,071	G/T	—	uncertain significance
rs767502632	11:67,223,081	G/A	—	conflicting classifications of pathogenicity
rs1790765	11:67,223,086	C/G	—	likely benign
rs149056460	11:67,223,087	G/A	—	likely benign
rs886048559	11:67,223,088	A/G	—	uncertain significance
rs752839228	11:67,223,094	C/T	—	uncertain significance
rs542905066	11:67,223,095	G/A	—	likely benign
rs1168807103	11:67,223,101	C/T	—	likely benign
rs143788427	11:67,223,108	A/C	—	conflicting classifications of pathogenicity
rs985847582	11:67,223,110	C/T	—	likely benign
rs781765153	11:67,223,114	C/A	—	uncertain significance
rs1050306159	11:67,223,122	T/G	—	conflicting classifications of pathogenicity
rs748865845	11:67,223,124	G/C	—	uncertain significance
rs1344232929	11:67,223,127	A/T	—	uncertain significance
rs1272372672	11:67,223,128	G/A	—	likely benign
rs771931640	11:67,223,133	C/T	—	uncertain significance
rs773166096	11:67,223,134	G/C	—	likely benign
rs148140510	11:67,223,136	C/T	—	conflicting classifications of pathogenicity
rs143946765	11:67,223,137	G/A	—	likely benign
rs147329388	11:67,223,140	C/A	—	conflicting classifications of pathogenicity
rs763071394	11:67,223,141	G/A	—	uncertain significance
rs1217957173	11:67,223,144	C/A	—	uncertain significance
rs1240458375	11:67,223,147	C/T	—	uncertain significance
rs757725571	11:67,223,150	G/A	—	uncertain significance
rs2135173915	11:67,223,153	T/A	—	uncertain significance
rs768085983	11:67,223,154	C/T	—	uncertain significance
rs756686904	11:67,223,156	C/T	—	uncertain significance
rs1402092785	11:67,223,158	T/C	—	likely benign
rs748891243	11:67,223,163	C/T	—	uncertain significance
rs754530364	11:67,223,164	G/A	—	likely benign
rs2495635644	11:67,223,170	T/G	—	likely benign
rs139328894	11:67,223,174	C/T	—	uncertain significance
rs143040005	11:67,223,175	G/A	—	conflicting classifications of pathogenicity
rs746914069	11:67,223,178	A/G	—	uncertain significance
rs777555935	11:67,223,186	C/T	—	pathogenic
rs545448479	11:67,223,187	G/A	—	uncertain significance
rs1204864137	11:67,223,190	A/T	—	uncertain significance
rs139706575	11:67,223,193	G/A	—	benign
rs555315887	11:67,223,203	C/T	—	conflicting classifications of pathogenicity
rs756570102	11:67,223,209	C/T	—	conflicting classifications of pathogenicity
rs375330570	11:67,223,212	C/T	—	conflicting classifications of pathogenicity
rs1451864097	11:67,223,213	G/A	—	uncertain significance
rs199718669	11:67,223,216	G/A	—	uncertain significance
rs1278067109	11:67,223,220	A/G	—	uncertain significance
rs1483537948	11:67,223,227	A/G	—	likely benign
rs369080675	11:67,223,230	C/T	—	likely benign
rs984831382	11:67,223,231	G/A	—	uncertain significance
rs1321988876	11:67,223,233	G/T	—	likely benign
rs746596431	11:67,223,234	C/A	—	uncertain significance
rs563320221	11:67,223,243	A/G	—	uncertain significance
rs1426615876	11:67,223,246	C/A	—	likely benign
rs192900242	11:67,223,254	C/T	—	likely benign
rs549293344	11:67,223,255	G/A	—	uncertain significance
rs754194901	11:67,223,261	G/T	—	pathogenic
rs2495636325	11:67,223,267	T/C	—	uncertain significance
rs1335331111	11:67,223,270	G/C	—	uncertain significance
rs1405818059	11:67,223,271	A/G	—	likely benign
rs765747115	11:67,223,643	G/A	—	conflicting classifications of pathogenicity

Showing 100 of 330 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.