DSG4

desmoglein 4

Summary

This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]

Known Variants219 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs184332862	18:28,956,742	C/T	—	uncertain significance
rs112913648	18:28,956,774	T/A	—	uncertain significance
rs886053703	18:28,956,787	A/G	—	uncertain significance
rs142563540	18:28,956,809	G/A	—	uncertain significance
rs112493254	18:28,956,823	G/A	—	uncertain significance
rs140773382	18:28,956,832	A/G	—	uncertain significance
rs200979438	18:28,956,859	A/G	—	uncertain significance
rs146720169	18:28,956,865	A/G	—	uncertain significance
rs756176296	18:28,956,892	C/A	—	uncertain significance
rs75549650	18:28,956,895	A/G	—	likely benign
rs36101975	18:28,956,904	T/C	—	benign
rs10502570	18:28,957,072	A/T	—	benign
rs1813419	18:28,964,860	T/C	—	benign
rs142998813	18:28,965,099	G/A	—	uncertain significance
rs758293444	18:28,965,101	G/A	—	likely benign
rs756862725	18:28,965,132	G/T	—	likely pathogenic
rs1460597	18:28,966,518	G/C	—	benign
rs201146453	18:28,966,666	A/G	—	uncertain significance
rs2510858461	18:28,966,695	A/C	—	likely benign
rs527707261	18:28,966,742	G/A	—	uncertain significance
rs755839912	18:28,966,762	A/G	—	likely benign
rs766203357	18:28,966,768	A/G	—	uncertain significance
rs753512705	18:28,966,774	A/G	—	uncertain significance
rs778441344	18:28,966,782	A/G	—	uncertain significance
rs1568062215	18:28,966,783	G/T	—	pathogenic
rs1474083096	18:28,966,789	G/A	—	likely benign
rs36040686	18:28,968,349	C/T	—	conflicting classifications of pathogenicity
rs16959856	18:28,968,371	G/A	—	benign
rs886053704	18:28,968,372	A/C	—	uncertain significance
rs765906278	18:28,968,381	G/A	—	uncertain significance
rs746951483	18:28,968,427	G/A	—	uncertain significance
rs2510859698	18:28,968,460	A/G	—	uncertain significance
rs748939245	18:28,968,841	A/G	—	uncertain significance
rs143110911	18:28,968,862	G/A	—	uncertain significance
rs76399598	18:28,968,881	G/C	—	uncertain significance
rs2072219514	18:28,968,892	T/G	—	uncertain significance
rs13381457	18:28,968,924	G/A	—	likely benign
rs201177179	18:28,968,938	G/T	—	uncertain significance
rs9956865	18:28,968,959	C/T	—	benign
rs765676569	18:28,968,961	T/C	—	uncertain significance
rs779253679	18:28,968,962	T/G	—	uncertain significance
rs1268612950	18:28,968,988	A/T	—	uncertain significance
rs764234368	18:28,968,989	G/A	—	likely benign
rs16959863	18:28,969,008	C/T	—	benign
rs9946162	18:28,969,018	T/G	—	benign
rs9946169	18:28,969,044	T/C	—	benign
rs528153409	18:28,969,721	G/T	—	—
rs16961779	18:28,970,525	G/A	—	benign
rs267606775	18:28,970,675	T/C	missense variant	pathogenic
rs754844750	18:28,970,682	T/C	—	uncertain significance
rs369598361	18:28,970,688	A/G	—	uncertain significance
rs372838408	18:28,970,691	A/G	—	uncertain significance
rs139019059	18:28,970,696	G/A	—	likely benign
rs150614630	18:28,970,724	T/C	—	conflicting classifications of pathogenicity
rs1358393438	18:28,970,726	T/C	—	uncertain significance
rs749155221	18:28,970,729	A/T	—	uncertain significance
rs149615937	18:28,970,779	C/T	—	likely benign
rs16961784	18:28,970,982	G/A	—	benign
rs757100375	18:28,971,069	G/C	—	uncertain significance
rs146853509	18:28,971,071	G/A	—	uncertain significance
rs749789051	18:28,971,093	C/T	—	uncertain significance
rs1462595806	18:28,971,119	—	—	pathogenic
rs267606776	18:28,971,156	C/G	missense variant	pathogenic
rs750121324	18:28,971,172	T/G	—	likely benign
rs75777320	18:28,971,484	A/G	—	benign
rs35210710	18:28,972,153	G/A	—	likely benign
rs267606777	18:28,972,163	C/T	stop gained	pathogenic
rs751974865	18:28,972,182	T/C	—	uncertain significance
rs989929740	18:28,972,190	G/A	—	uncertain significance
rs746863735	18:28,972,217	T/G	—	uncertain significance
rs770611447	18:28,972,218	A/G	—	uncertain significance
rs886053705	18:28,972,226	C/A	—	uncertain significance
rs146457133	18:28,972,228	C/T	—	uncertain significance
rs759072801	18:28,972,233	G/A	—	uncertain significance
rs2072258973	18:28,972,244	A/G	—	uncertain significance
rs140750904	18:28,972,253	G/A	—	conflicting classifications of pathogenicity
rs767724665	18:28,972,266	A/G	—	pathogenic
rs149724713	18:28,972,278	A/G	—	conflicting classifications of pathogenicity
rs774592364	18:28,972,304	G/A	—	uncertain significance
rs17802140	18:28,972,363	C/A	—	benign
rs1460594	18:28,978,926	A/C	—	benign
rs112376128	18:28,979,254	C/T	—	uncertain significance
rs148911860	18:28,979,257	C/T	—	uncertain significance
rs773666252	18:28,979,277	G/A	—	uncertain significance
rs998283060	18:28,979,308	C/G	—	uncertain significance
rs372942507	18:28,979,310	G/A	—	uncertain significance
rs530136665	18:28,979,330	G/A	—	uncertain significance
rs1598745464	18:28,979,343	G/A	—	uncertain significance
rs201719326	18:28,979,347	G/A	—	uncertain significance
rs143590546	18:28,979,357	T/C	—	conflicting classifications of pathogenicity
rs145078681	18:28,979,366	G/T	—	conflicting classifications of pathogenicity
rs747652052	18:28,979,371	A/G	—	uncertain significance
rs1390687224	18:28,979,374	G/C	—	uncertain significance
rs773617073	18:28,979,377	C/T	—	uncertain significance
rs771430126	18:28,979,387	T/A	—	uncertain significance
rs1387261643	18:28,979,422	T/A	—	uncertain significance
rs35378785	18:28,979,427	G/A	—	conflicting classifications of pathogenicity
rs201015162	18:28,979,428	G/A	—	uncertain significance
rs376174057	18:28,979,439	T/C	—	uncertain significance
rs1232931755	18:28,979,443	A/G	—	uncertain significance

Showing 100 of 219 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.