EDA

ectodysplasin A

Summary

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants402 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2147196753	X:68,836,073	G/T	—	uncertain significance
rs2147196982	X:68,836,153	A/G	—	pathogenic
rs397516659	X:68,836,154	T/C	missense variant	pathogenic
rs1396384936	X:68,836,163	C/G	—	uncertain significance
rs1931927058	X:68,836,174	C/A	—	uncertain significance
rs754851778	X:68,836,180	G/T	—	pathogenic
rs951456645	X:68,836,188	G/A	—	likely benign
rs2519669740	X:68,836,191	T/C	—	likely benign
rs2519669763	X:68,836,194	A/G	—	likely benign
rs2147197188	X:68,836,200	G/A	—	likely benign
rs752730106	X:68,836,208	A/C	—	likely benign
rs758521262	X:68,836,209	G/A	—	likely benign
rs2519669835	X:68,836,210	C/T	—	pathogenic
rs183801635	X:68,836,212	A/C	—	benign
rs2147197257	X:68,836,218	C/T	—	likely benign
rs132630310	X:68,836,219	C/T	stop gained	pathogenic
rs2519670021	X:68,836,242	C/A	—	likely benign
rs1168030930	X:68,836,249	C/T	—	conflicting classifications of pathogenicity
rs1436803821	X:68,836,258	G/A	—	uncertain significance
rs1301485954	X:68,836,263	G/C	—	likely benign
rs2147197470	X:68,836,273	C/T	—	likely benign
rs760109372	X:68,836,284	G/C	—	benign
rs1931938364	X:68,836,286	G/A	—	pathogenic
rs766017052	X:68,836,287	T/C	—	likely benign
rs1931939988	X:68,836,300	T/G	—	uncertain significance
rs2519670289	X:68,836,301	C/G	—	uncertain significance
rs974684362	X:68,836,309	C/T	—	uncertain significance
rs1569272194	X:68,836,313	A/T	—	likely pathogenic
rs1602221926	X:68,836,315	C/G	—	likely pathogenic
rs397516657	X:68,836,316	T/A	missense variant	pathogenic
rs2519670339	X:68,836,318	C/T	—	likely benign
rs1569272203	X:68,836,319	T/A	—	pathogenic
rs1931942632	X:68,836,322	C/G	—	likely pathogenic
rs2519670387	X:68,836,330	T/C	—	likely pathogenic
rs371948574	X:68,836,331	G/A	—	uncertain significance
rs1131692034	X:68,836,332	C/A	—	pathogenic
rs132630308	X:68,836,333	T/A	missense variant	pathogenic
rs132630318	X:68,836,335	C/T	synonymous variant	likely benign
rs132630311	X:68,836,339	G/A	missense variant	pathogenic
rs132630319	X:68,836,345	C/G	missense variant	pathogenic
rs2147197722	X:68,836,347	C/A	—	likely benign
rs751588921	X:68,836,349	C/T	—	benign
rs1411922411	X:68,836,350	G/C	—	likely benign
rs727505160	X:68,836,353	G/T	—	uncertain significance
rs200659934	X:68,836,357	C/T	—	benign
rs132630309	X:68,836,358	G/T	missense variant	pathogenic
rs1233934840	X:68,836,367	G/A	—	benign
rs756470714	X:68,836,370	G/C	—	likely benign
rs2147197866	X:68,836,375	G/T	—	pathogenic
rs2519670599	X:68,836,377	G/A	—	likely benign
rs1569272277	X:68,836,386	T/A	—	likely benign
rs780456712	X:68,836,394	C/T	—	likely benign
rs749669397	X:68,836,395	G/C	—	likely benign
rs769141538	X:68,836,401	C/G	—	likely benign
rs1931955604	X:68,836,410	C/T	—	likely benign
rs2519670818	X:68,836,425	C/T	—	likely benign
rs746479442	X:68,836,429	C/T	—	benign
rs770397072	X:68,836,440	C/G	—	likely benign
rs182251004	X:68,836,453	C/T	—	uncertain significance
rs1602222372	X:68,836,470	T/C	—	likely benign
rs2147198265	X:68,836,473	G/A	—	likely benign
rs1931961437	X:68,836,479	G/C	—	likely benign
rs397516660	X:68,836,481	C/A	stop gained	pathogenic
rs775366784	X:68,836,497	A/G	—	likely benign
rs1217340038	X:68,836,498	T/C	—	likely benign
rs397516661	X:68,836,499	T/A	stop gained	pathogenic
rs762842929	X:68,836,506	G/C	—	likely benign
rs1931965002	X:68,836,518	A/C	—	likely benign
rs751470511	X:68,836,523	A/G	—	likely benign
rs761927541	X:68,836,527	T/C	—	likely benign
rs148738342	X:68,836,533	C/T	—	benign
rs750635386	X:68,836,539	C/G	—	likely benign
rs143746851	X:68,836,542	G/T	—	benign
rs727504537	X:68,836,549	G/A	—	pathogenic
rs727504814	X:68,836,550	T/C	—	pathogenic
rs1931970978	X:68,836,553	G/C	—	uncertain significance
rs1931971305	X:68,836,557	C/T	—	likely benign
rs754163471	X:68,836,558	C/T	—	likely benign
rs5936720	X:68,889,748	A/C	—	benign
rs58193418	X:68,890,047	C/T	—	benign
rs5936723	X:68,890,248	C/T	—	benign
rs5980833	X:68,890,298	C/G	—	benign
rs5936487	X:68,892,916	G/T	—	—
rs7065712	X:68,901,737	G/A	intron variant	—
rs2520386	X:68,996,186	A/T	—	—
rs2428151	X:69,002,976	A/G	intron variant	—
rs2520378	X:69,017,223	G/A	intron variant	—
rs12853659	X:69,056,972	C/T	intron variant	—
rs2205009	X:69,080,565	T/C	—	benign
rs1203003	X:69,080,840	G/A	—	benign
rs1203008	X:69,121,191	G/A	intron variant	—
rs112656121	X:69,158,055	C/G	upstream gene variant	—
rs1439575469	X:69,176,858	G/A	—	likely benign
rs2520242320	X:69,176,865	T/C	—	likely benign
rs2520242327	X:69,176,871	T/C	—	likely benign
rs2520242340	X:69,176,875	A/T	—	pathogenic
rs2520242345	X:69,176,876	G/C	—	pathogenic
rs759732958	X:69,176,878	T/C	—	uncertain significance
rs765510570	X:69,176,883	C/T	—	likely benign
rs2520242403	X:69,176,886	T/C	—	likely benign

Showing 100 of 402 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.