CCBE1

collagen and calcium binding EGF domains 1

Summary

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

Known Variants464 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886054039	18:57,098,184	T/G	—	uncertain significance
rs1129748	18:57,098,195	G/T	—	benign
rs374031151	18:57,098,200	T/A	—	uncertain significance
rs145940035	18:57,098,206	C/A	—	likely benign
rs139842926	18:57,098,263	G/C	—	uncertain significance
rs141622451	18:57,098,294	C/T	—	benign
rs531452846	18:57,098,322	C/T	—	uncertain significance
rs187448235	18:57,098,341	C/T	—	uncertain significance
rs1048008	18:57,098,344	C/G	—	uncertain significance
rs77728352	18:57,098,352	G/A	—	benign
rs192810490	18:57,098,367	G/C	—	uncertain significance
rs938648058	18:57,098,385	T/G	—	uncertain significance
rs1048006	18:57,098,391	A/G	—	benign
rs1004161493	18:57,098,402	C/T	—	uncertain significance
rs570883624	18:57,098,425	A/C	—	uncertain significance
rs1337715213	18:57,098,430	C/T	—	uncertain significance
rs1909941641	18:57,098,615	A/G	—	uncertain significance
rs7230906	18:57,098,636	C/G	—	benign
rs146222689	18:57,098,642	A/G	—	likely benign
rs6567083	18:57,098,742	G/T	—	benign
rs776172092	18:57,098,765	A/G	—	uncertain significance
rs866996406	18:57,098,858	C/T	—	uncertain significance
rs886054040	18:57,098,894	G/C	—	uncertain significance
rs1344828295	18:57,098,925	T/A	—	uncertain significance
rs556156318	18:57,098,960	T/C	—	benign
rs150040471	18:57,098,967	T/C	—	uncertain significance
rs187148297	18:57,099,209	C/T	—	likely benign
rs939031016	18:57,099,218	A/T	—	uncertain significance
rs192002000	18:57,099,247	G/A	—	uncertain significance
rs886054041	18:57,099,257	C/A	—	uncertain significance
rs368332997	18:57,099,278	C/T	—	uncertain significance
rs145393328	18:57,099,287	G/A	—	likely benign
rs1008249593	18:57,099,331	G/A	—	uncertain significance
rs4940462	18:57,099,335	A/G	—	benign
rs1909965307	18:57,099,339	C/T	—	uncertain significance
rs1296262836	18:57,099,340	C/T	—	uncertain significance
rs886054042	18:57,099,352	A/T	—	uncertain significance
rs12957684	18:57,099,360	T/A	—	benign
rs184237348	18:57,099,363	T/A	—	benign
rs371219962	18:57,099,430	T/C	—	likely benign
rs193017602	18:57,099,436	G/T	—	uncertain significance
rs886054044	18:57,099,437	C/T	—	uncertain significance
rs886054046	18:57,099,517	T/G	—	uncertain significance
rs112059725	18:57,099,607	G/T	—	benign
rs17769805	18:57,099,665	C/G	—	benign
rs1360147097	18:57,099,710	A/G	—	uncertain significance
rs548992924	18:57,099,883	T/C	—	uncertain significance
rs1909983760	18:57,099,901	C/G	—	uncertain significance
rs1008043301	18:57,099,909	C/T	—	uncertain significance
rs8084216	18:57,099,958	A/C	—	likely benign
rs78990130	18:57,099,978	A/G	—	benign
rs1473839692	18:57,099,993	A/G	—	uncertain significance
rs886054047	18:57,099,997	A/G	—	uncertain significance
rs189149568	18:57,100,000	C/A	—	uncertain significance
rs147056520	18:57,100,060	T/C	—	likely benign
rs75031007	18:57,100,104	G/C	—	benign
rs117999156	18:57,100,162	A/T	—	benign
rs79828144	18:57,100,187	G/T	—	uncertain significance
rs559362654	18:57,100,228	C/A	—	uncertain significance
rs181044048	18:57,100,237	C/G	—	uncertain significance
rs151072136	18:57,100,239	A/T	—	uncertain significance
rs886054048	18:57,100,249	C/T	—	uncertain significance
rs73450357	18:57,100,307	G/T	—	benign
rs116611266	18:57,100,315	T/C	—	benign
rs886054049	18:57,100,330	T/C	—	uncertain significance
rs538634534	18:57,100,353	A/G	—	benign
rs886054050	18:57,100,369	T/C	—	uncertain significance
rs114107592	18:57,100,382	G/A	—	benign
rs1975499	18:57,100,410	C/T	—	benign
rs150355335	18:57,100,412	T/C	—	conflicting classifications of pathogenicity
rs115205666	18:57,100,467	C/T	—	benign
rs1187439806	18:57,100,505	T/C	—	uncertain significance
rs76216795	18:57,100,680	A/G	—	likely benign
rs930821759	18:57,100,729	G/A	—	uncertain significance
rs911000731	18:57,100,751	G/C	—	uncertain significance
rs530647353	18:57,100,767	G/A	—	uncertain significance
rs9959080	18:57,100,768	G/A	—	benign
rs9959752	18:57,100,779	C/T	—	benign
rs528130337	18:57,100,800	A/G	—	uncertain significance
rs886054052	18:57,100,841	A/T	—	uncertain significance
rs9948686	18:57,100,898	A/G	—	benign
rs9959855	18:57,100,913	C/T	—	benign
rs886054054	18:57,100,930	A/G	—	uncertain significance
rs535062443	18:57,100,962	G/A	—	likely benign
rs376015917	18:57,100,982	G/A	—	likely benign
rs557473811	18:57,100,997	C/T	—	uncertain significance
rs1910029324	18:57,101,019	G/A	—	uncertain significance
rs181336531	18:57,101,060	G/A	—	uncertain significance
rs886054055	18:57,101,082	C/T	—	uncertain significance
rs886054056	18:57,101,089	G/T	—	uncertain significance
rs540232421	18:57,101,117	C/G	—	uncertain significance
rs113599524	18:57,101,120	G/A	—	benign
rs886054058	18:57,101,123	C/T	—	uncertain significance
rs61687734	18:57,101,148	T/A	—	uncertain significance
rs144921615	18:57,101,171	T/C	—	benign
rs138525348	18:57,101,198	A/G	—	likely benign
rs1192851582	18:57,101,279	G/A	—	uncertain significance
rs886054063	18:57,101,369	C/T	—	uncertain significance
rs553357543	18:57,101,403	G/A	—	uncertain significance
rs886054064	18:57,101,415	C/T	—	uncertain significance

Showing 100 of 464 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.