CDH19

cadherin 19

Summary

This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]

Known Variants71 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199795370	18:64,172,114	C/T	—	uncertain significance
rs1472316547	18:64,172,161	A/G	—	uncertain significance
rs60951620	18:64,172,188	C/A	—	benign
rs116586793	18:64,172,234	C/T	—	benign
rs1172915041	18:64,172,306	C/T	—	uncertain significance
rs751703202	18:64,172,323	T/A	—	uncertain significance
rs147142082	18:64,172,410	G/T	—	benign
rs201955048	18:64,172,432	C/T	—	likely benign
rs747654871	18:64,172,459	T/C	—	uncertain significance
rs1279677840	18:64,172,498	G/T	—	uncertain significance
rs146814012	18:64,172,506	C/T	—	uncertain significance
rs774746679	18:64,172,514	T/G	—	uncertain significance
rs764929174	18:64,176,257	A/C	—	uncertain significance
rs3764472	18:64,176,269	G/A	—	benign
rs140371685	18:64,176,285	C/G	—	uncertain significance
rs1198356030	18:64,176,342	C/T	—	uncertain significance
rs755653539	18:64,176,364	G/A	—	uncertain significance
rs150353589	18:64,176,386	C/T	—	benign
rs1284395348	18:64,176,429	G/A	—	uncertain significance
rs757725429	18:64,178,838	T/A	—	uncertain significance
rs367965057	18:64,197,083	T/C	—	uncertain significance
rs147521124	18:64,197,140	G/A	—	uncertain significance
rs756057395	18:64,197,182	G/A	—	uncertain significance
rs1017715560	18:64,197,200	T/C	—	uncertain significance
rs182059755	18:64,197,449	A/G	intron variant	—
rs1986607172	18:64,202,327	C/T	—	uncertain significance
rs139472770	18:64,202,337	T/C	—	likely benign
rs372526203	18:64,211,200	A/G	—	likely benign
rs1161240862	18:64,211,274	G/C	—	likely benign
rs764030217	18:64,211,289	T/G	—	uncertain significance
rs144091143	18:64,211,343	T/C	—	likely benign
rs1439765144	18:64,211,352	A/G	—	uncertain significance
rs200746540	18:64,211,364	G/A	—	uncertain significance
rs1987008288	18:64,211,367	G/A	—	uncertain significance
rs2511846006	18:64,211,385	A/G	—	uncertain significance
rs2511846031	18:64,211,394	T/C	—	uncertain significance
rs761788050	18:64,211,406	T/G	—	uncertain significance
rs772603380	18:64,211,409	T/A	—	uncertain significance
rs2511846183	18:64,211,441	C/G	—	uncertain significance
rs146495985	18:64,211,445	T/G	—	likely benign
rs754046741	18:64,211,984	G/C	—	uncertain significance
rs971481540	18:64,211,989	A/T	—	uncertain significance
rs753005271	18:64,212,093	T/G	—	uncertain significance
rs747405592	18:64,218,334	C/T	—	uncertain significance
rs2511856446	18:64,218,373	T/C	—	uncertain significance
rs754546870	18:64,218,402	G/A	—	uncertain significance
rs2511859972	18:64,221,665	T/C	—	uncertain significance
rs763770985	18:64,221,673	G/A	—	uncertain significance
rs1283880904	18:64,221,675	C/T	—	uncertain significance
rs112649233	18:64,221,688	G/A	—	benign
rs138493909	18:64,221,698	C/T	—	uncertain significance
rs1453631767	18:64,221,699	G/A	—	uncertain significance
rs111743500	18:64,221,751	A/G	—	benign
rs116957667	18:64,235,643	T/C	—	likely benign
rs192921997	18:64,235,665	T/A	—	likely benign
rs146410943	18:64,235,692	C/G	—	likely benign
rs1172748817	18:64,235,694	T/A	—	uncertain significance
rs371102409	18:64,235,730	A/G	—	uncertain significance
rs753124384	18:64,235,755	G/T	—	uncertain significance
rs533476523	18:64,235,790	T/C	—	uncertain significance
rs139392316	18:64,235,791	G/T	—	uncertain significance
rs2511878082	18:64,235,812	A/G	—	uncertain significance
rs114375304	18:64,235,877	G/A	—	benign
rs1351995752	18:64,235,880	C/G	—	uncertain significance
rs1568202362	18:64,235,928	T/C	—	uncertain significance
rs145183549	18:64,235,930	G/T	—	uncertain significance
rs759627014	18:64,239,298	G/T	—	uncertain significance
rs149175877	18:64,239,301	C/G	—	uncertain significance
rs113837639	18:64,239,369	T/C	—	benign
rs116708360	18:64,239,387	A/T	—	benign
rs368840152	18:64,239,420	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.