DSG1

desmoglein 1

Summary

This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]

Known Variants654 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1834582	18:28,898,201	A/G	—	benign
rs371998253	18:28,898,256	C/A	—	likely benign
rs2511038285	18:28,898,267	G/C	—	uncertain significance
rs762299574	18:28,898,272	G/C	—	uncertain significance
rs150439970	18:28,898,282	A/G	—	uncertain significance
rs1426310	18:28,898,294	A/G	missense variant	benign
rs2511038330	18:28,898,297	C/T	—	likely benign
rs141269991	18:28,898,303	A/G	—	uncertain significance
rs2144077513	18:28,898,314	G/C	—	uncertain significance
rs2511038368	18:28,898,318	G/A	—	likely benign
rs377318090	18:28,898,319	G/T	—	likely benign
rs2071633116	18:28,898,323	C/T	—	likely benign
rs2511038374	18:28,898,327	T/C	—	likely benign
rs777577111	18:28,898,330	A/C	—	likely benign
rs1426311	18:28,898,567	G/A	—	benign
rs7236477	18:28,902,322	A/G	intron variant	—
rs57200666	18:28,906,460	T/C	—	benign
rs60498108	18:28,906,461	G/A	—	benign
rs398122952	18:28,906,543	G/A	—	pathogenic
rs2511042423	18:28,906,545	T/C	—	uncertain significance
rs397515639	18:28,906,571	C/T	stop gained	pathogenic
rs371750753	18:28,906,572	G/A	—	uncertain significance
rs2144087472	18:28,906,573	A/G	—	likely benign
rs1383713737	18:28,906,588	T/C	—	likely benign
rs765416227	18:28,906,598	A/G	—	likely benign
rs747381227	18:28,906,817	C/T	—	likely benign
rs771394778	18:28,906,821	A/G	—	likely benign
rs1568039793	18:28,906,836	G/A	—	pathogenic
rs759853035	18:28,906,837	G/A	—	uncertain significance
rs1250908280	18:28,906,839	A/G	—	likely benign
rs2071688855	18:28,906,849	A/G	—	uncertain significance
rs2071688880	18:28,906,853	C/T	—	uncertain significance
rs1436775072	18:28,906,856	A/T	—	uncertain significance
rs775732796	18:28,906,867	A/G	—	uncertain significance
rs1182196436	18:28,906,885	C/T	—	pathogenic
rs78287742	18:28,906,886	G/A	—	uncertain significance
rs2144087833	18:28,906,898	G/T	—	uncertain significance
rs2144087836	18:28,906,906	A/T	—	uncertain significance
rs778383508	18:28,906,914	C/T	—	likely benign
rs747673709	18:28,906,915	G/T	—	uncertain significance
rs1427235253	18:28,906,921	G/A	—	uncertain significance
rs2511042832	18:28,906,926	T/A	—	pathogenic
rs2071689533	18:28,906,927	C/T	—	uncertain significance
rs757841646	18:28,906,928	G/A	—	uncertain significance
rs1030004076	18:28,906,935	T/G	—	likely benign
rs2071689659	18:28,906,950	G/A	—	likely benign
rs145119037	18:28,906,960	A/G	—	uncertain significance
rs1295626703	18:28,906,972	G/A	—	uncertain significance
rs770068125	18:28,906,975	A/G	—	likely benign
rs2511042902	18:28,906,979	A/G	—	likely benign
rs2144087950	18:28,906,988	C/A	—	likely benign
rs765054	18:28,907,096	C/T	—	benign
rs9956026	18:28,907,226	T/G	—	benign
rs2303465	18:28,908,090	G/A	—	benign
rs2511043809	18:28,908,134	C/T	—	likely benign
rs2511043815	18:28,908,139	G/C	—	likely benign
rs556306911	18:28,908,140	T/C	—	likely benign
rs201339427	18:28,908,144	T/C	—	likely benign
rs138930324	18:28,908,153	T/C	—	uncertain significance
rs781492654	18:28,908,154	T/C	—	likely benign
rs2511043841	18:28,908,159	C/G	—	pathogenic
rs1598699465	18:28,908,176	C/T	—	pathogenic
rs74368609	18:28,908,178	G/C	—	benign
rs2511043868	18:28,908,180	A/G	—	uncertain significance
rs2071698508	18:28,908,184	T/C	—	likely benign
rs774601712	18:28,908,185	A/T	—	uncertain significance
rs761748106	18:28,908,191	C/T	—	uncertain significance
rs2511043894	18:28,908,215	C/T	—	pathogenic
rs1364683780	18:28,908,230	A/T	—	uncertain significance
rs573281660	18:28,908,252	C/G	—	uncertain significance
rs2511043960	18:28,908,256	T/C	—	likely benign
rs2511043966	18:28,908,266	A/G	—	uncertain significance
rs780602124	18:28,908,274	C/G	—	likely benign
rs2511043980	18:28,908,278	G/A	—	uncertain significance
rs1477332818	18:28,908,279	T/C	—	uncertain significance
rs150168711	18:28,908,281	G/A	—	uncertain significance
rs988398208	18:28,908,285	G/A	—	uncertain significance
rs376000128	18:28,908,298	T/G	—	likely benign
rs138672131	18:28,908,304	C/T	—	benign
rs980280280	18:28,908,305	A/C	—	uncertain significance
rs745843187	18:28,908,306	T/C	—	uncertain significance
rs373204718	18:28,908,322	T/A	—	likely benign
rs16961644	18:28,908,542	T/C	—	benign
rs2071709795	18:28,909,836	T/C	—	likely benign
rs2511044961	18:28,909,855	A/T	—	uncertain significance
rs1268442199	18:28,909,864	C/T	—	pathogenic
rs866214983	18:28,909,865	G/A	—	uncertain significance
rs2511044970	18:28,909,867	G/A	—	uncertain significance
rs2144091452	18:28,909,877	C/A	—	pathogenic
rs748381287	18:28,909,880	T/A	—	uncertain significance
rs201280195	18:28,909,884	C/T	—	likely benign
rs747052043	18:28,909,899	G/T	—	uncertain significance
rs559051142	18:28,909,900	C/A	—	uncertain significance
rs775350981	18:28,909,907	A/C	—	uncertain significance
rs1162468057	18:28,909,909	C/T	—	uncertain significance
rs397515641	18:28,909,912	A/T	stop gained	pathogenic
rs140424661	18:28,909,930	A/G	—	uncertain significance
rs371978779	18:28,909,942	C/T	—	uncertain significance
rs200830982	18:28,909,950	G/A	—	likely benign
rs931207229	18:28,909,957	A/G	—	uncertain significance

Showing 100 of 654 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.