DSP

desmoplakin

Summary

This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants3,751 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9505227	6:7,541,583	G/A	—	benign
rs2076298	6:7,541,611	G/C	—	benign
rs547069600	6:7,541,868	C/T	—	likely benign
rs886061738	6:7,541,889	A/G	—	uncertain significance
rs886061739	6:7,541,921	C/A	—	uncertain significance
rs886061740	6:7,541,959	G/T	—	uncertain significance
rs886061741	6:7,541,970	T/C	—	uncertain significance
rs886061742	6:7,541,992	G/A	—	uncertain significance
rs1757981061	6:7,542,045	G/A	—	uncertain significance
rs377133467	6:7,542,073	C/T	—	uncertain significance
rs1757982573	6:7,542,079	C/T	—	uncertain significance
rs1041217575	6:7,542,105	G/A	—	likely benign
rs886061743	6:7,542,113	C/A	—	uncertain significance
rs765436951	6:7,542,115	C/T	—	benign
rs1342207753	6:7,542,117	G/T	—	likely benign
rs780759932	6:7,542,134	C/T	—	uncertain significance
rs769398552	6:7,542,142	C/T	—	uncertain significance
rs1131691557	6:7,542,149	A/G	—	uncertain significance
rs748738880	6:7,542,150	T/G	missense variant	uncertain significance
rs2113628400	6:7,542,153	G/C	—	uncertain significance
rs776052488	6:7,542,154	C/T	—	likely benign
rs760993985	6:7,542,156	G/A	—	uncertain significance
rs769032973	6:7,542,157	C/T	—	conflicting classifications of pathogenicity
rs368802003	6:7,542,160	C/G	—	likely benign
rs1757989474	6:7,542,162	G/C	—	uncertain significance
rs1339636876	6:7,542,165	G/A	—	uncertain significance
rs2533800246	6:7,542,168	C/T	—	uncertain significance
rs750532252	6:7,542,169	C/T	—	likely benign
rs2533800283	6:7,542,171	A/T	—	uncertain significance
rs1367183114	6:7,542,172	C/A	—	uncertain significance
rs1303669220	6:7,542,174	C/A	—	uncertain significance
rs1581777241	6:7,542,178	G/T	—	likely benign
rs2533800426	6:7,542,179	A/G	—	uncertain significance
rs1757990554	6:7,542,182	A/C	—	uncertain significance
rs1239489755	6:7,542,183	A/G	—	uncertain significance
rs886061744	6:7,542,184	C/T	—	conflicting classifications of pathogenicity
rs2533800505	6:7,542,185	A/G	—	uncertain significance
rs201133637	6:7,542,186	C/T	—	conflicting classifications of pathogenicity
rs1282398925	6:7,542,188	C/G	—	uncertain significance
rs2533800567	6:7,542,191	G/A	—	uncertain significance
rs1265161836	6:7,542,192	G/A	—	uncertain significance
rs754773488	6:7,542,194	C/A	—	conflicting classifications of pathogenicity
rs752387234	6:7,542,195	G/C	—	conflicting classifications of pathogenicity
rs755777329	6:7,542,196	C/A	—	likely benign
rs1454368792	6:7,542,197	A/G	—	conflicting classifications of pathogenicity
rs559248100	6:7,542,198	T/G	—	uncertain significance
rs1309975219	6:7,542,200	A/C	—	uncertain significance
rs769533657	6:7,542,201	T/C	—	likely benign
rs1757992278	6:7,542,202	C/G	—	uncertain significance
rs777340009	6:7,542,203	C/T	—	conflicting classifications of pathogenicity
rs1757992558	6:7,542,204	G/A	—	uncertain significance
rs2113628728	6:7,542,205	C/A	—	likely benign
rs2533800770	6:7,542,208	C/T	—	likely benign
rs747956457	6:7,542,209	G/A	—	conflicting classifications of pathogenicity
rs770404661	6:7,542,211	G/T	—	uncertain significance
rs2113628752	6:7,542,212	T/C	—	uncertain significance
rs2533800831	6:7,542,213	C/G	—	uncertain significance
rs1757993019	6:7,542,215	G/A	—	uncertain significance
rs978383808	6:7,542,219	C/G	—	uncertain significance
rs780463807	6:7,542,220	G/A	—	likely benign
rs2113628779	6:7,542,221	G/T	—	uncertain significance
rs71559180	6:7,542,226	G/T	—	likely benign
rs762198350	6:7,542,227	C/G	—	uncertain significance
rs770203792	6:7,542,228	G/A	—	uncertain significance
rs773559423	6:7,542,229	C/A	—	likely benign
rs766454930	6:7,542,230	T/G	—	uncertain significance
rs2533800937	6:7,542,231	A/G	—	uncertain significance
rs2533800954	6:7,542,232	C/A	—	pathogenic
rs1320349488	6:7,542,233	G/T	—	pathogenic
rs121912998	6:7,542,236	G/A	missense variant	pathogenic
rs1757994526	6:7,542,237	T/C	—	uncertain significance
rs2533800992	6:7,542,238	G/A	—	conflicting classifications of pathogenicity
rs752494572	6:7,542,241	C/T	—	benign
rs2113628871	6:7,542,242	A/G	—	uncertain significance
rs1235755702	6:7,542,243	G/A	—	uncertain significance
rs1440994214	6:7,542,244	C/T	—	likely benign
rs1581777550	6:7,542,245	G/A	—	uncertain significance
rs755898551	6:7,542,247	C/T	—	likely benign
rs763785063	6:7,542,250	C/T	—	likely benign
rs202194206	6:7,542,252	G/C	—	conflicting classifications of pathogenicity
rs77445784	6:7,542,253	G/A	—	likely benign
rs1395509692	6:7,542,254	G/A	—	conflicting classifications of pathogenicity
rs778506459	6:7,542,255	G/C	—	conflicting classifications of pathogenicity
rs755510597	6:7,542,256	C/T	—	likely benign
rs2533801175	6:7,542,257	A/G	—	uncertain significance
rs1402760880	6:7,542,258	C/G	—	uncertain significance
rs727502995	6:7,542,259	C/A	—	likely benign
rs748578019	6:7,542,265	G/T	—	conflicting classifications of pathogenicity
rs1377575571	6:7,542,268	G/A	—	uncertain significance
rs1313805843	6:7,542,270	A/G	—	conflicting classifications of pathogenicity
rs1057523045	6:7,542,271	C/G	stop gained	pathogenic
rs1335076110	6:7,542,273	A/G	—	uncertain significance
rs36087964	6:7,542,274	C/T	—	benign
rs2533801373	6:7,542,275	T/C	—	uncertain significance
rs1757997664	6:7,542,276	C/T	—	uncertain significance
rs1255744065	6:7,542,278	C/T	—	conflicting classifications of pathogenicity
rs1204569556	6:7,542,280	G/A	—	likely benign
rs1236858821	6:7,542,281	C/T	—	uncertain significance
rs371517189	6:7,542,284	G/A	—	conflicting classifications of pathogenicity
rs140403872	6:7,542,285	G/A	—	conflicting classifications of pathogenicity

Showing 100 of 3,751 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.