WDR35

WD repeat domain 35

Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]

Known Variants614 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1669790644	2:20,110,020	G/A	—	uncertain significance
rs886055391	2:20,110,050	C/T	—	uncertain significance
rs113280329	2:20,110,051	G/A	—	benign
rs186978842	2:20,110,084	G/T	—	uncertain significance
rs189820516	2:20,110,094	C/T	—	uncertain significance
rs781556463	2:20,110,329	C/A	—	uncertain significance
rs886055392	2:20,110,330	G/A	—	uncertain significance
rs886055393	2:20,110,357	G/A	—	uncertain significance
rs76072774	2:20,110,362	C/T	—	benign
rs749198501	2:20,110,432	A/G	—	uncertain significance
rs74469198	2:20,110,483	A/G	—	benign
rs528776835	2:20,110,522	C/T	—	uncertain significance
rs886055394	2:20,110,571	C/A	—	uncertain significance
rs886055395	2:20,110,593	T/C	—	uncertain significance
rs886055396	2:20,110,594	C/A	—	uncertain significance
rs1001737898	2:20,110,690	A/T	—	uncertain significance
rs538967974	2:20,110,696	A/G	—	benign
rs558837510	2:20,110,697	T/C	—	benign
rs545271105	2:20,110,699	C/T	—	uncertain significance
rs565144558	2:20,110,700	G/A	—	uncertain significance
rs563586298	2:20,110,701	C/T	—	uncertain significance
rs751743368	2:20,110,760	T/C	—	uncertain significance
rs3731661	2:20,110,856	A/G	—	benign
rs112569580	2:20,110,911	C/G	—	benign
rs886055397	2:20,110,978	C/G	—	uncertain significance
rs72779355	2:20,111,004	C/G	—	likely benign
rs886055398	2:20,111,031	G/A	—	uncertain significance
rs1042042509	2:20,111,080	C/T	—	uncertain significance
rs1669828408	2:20,111,091	G/A	—	uncertain significance
rs192966128	2:20,111,159	A/G	—	uncertain significance
rs1669835588	2:20,111,359	C/A	—	uncertain significance
rs947201612	2:20,111,362	G/A	—	uncertain significance
rs886055399	2:20,111,385	T/C	—	uncertain significance
rs978221263	2:20,111,498	T/C	—	uncertain significance
rs1188052659	2:20,111,565	G/C	—	uncertain significance
rs188310451	2:20,111,638	T/C	—	likely benign
rs191316348	2:20,111,651	T/G	—	uncertain significance
rs1669848389	2:20,111,682	G/A	—	uncertain significance
rs757203175	2:20,111,737	G/A	—	uncertain significance
rs10182866	2:20,111,830	C/T	—	benign
rs77400381	2:20,111,840	G/A	—	benign
rs886055400	2:20,111,858	T/G	—	uncertain significance
rs567295822	2:20,111,906	G/A	—	uncertain significance
rs10197681	2:20,111,913	T/C	—	benign
rs1039776865	2:20,111,949	C/T	—	uncertain significance
rs568999408	2:20,112,049	G/A	—	uncertain significance
rs368665906	2:20,112,066	G/C	—	uncertain significance
rs1003005484	2:20,112,100	C/T	—	uncertain significance
rs990547735	2:20,112,101	G/A	—	uncertain significance
rs1466981368	2:20,112,112	G/C	—	uncertain significance
rs1036362475	2:20,112,173	A/G	—	uncertain significance
rs76845713	2:20,112,190	A/G	—	benign
rs75503594	2:20,112,192	C/T	—	benign
rs778834686	2:20,112,257	C/T	—	uncertain significance
rs10197890	2:20,112,269	A/G	—	benign
rs145549829	2:20,112,281	G/C	—	uncertain significance
rs80292673	2:20,112,313	C/T	—	uncertain significance
rs746476400	2:20,112,314	G/T	—	uncertain significance
rs530093062	2:20,112,321	T/C	—	likely benign
rs536197643	2:20,112,322	A/G	—	uncertain significance
rs149444449	2:20,112,341	T/C	—	benign
rs148210550	2:20,112,506	T/A	—	uncertain significance
rs555257043	2:20,112,512	A/G	—	likely benign
rs190700326	2:20,112,524	G/A	—	uncertain significance
rs560228088	2:20,112,556	A/G	—	likely benign
rs1451842817	2:20,112,572	G/A	—	uncertain significance
rs572859023	2:20,112,607	T/A	—	uncertain significance
rs1669878199	2:20,112,684	G/A	—	uncertain significance
rs182037850	2:20,112,718	T/C	—	likely benign
rs140069324	2:20,112,746	T/A	—	likely benign
rs561642193	2:20,112,756	A/C	—	uncertain significance
rs79153401	2:20,112,766	C/A	—	benign
rs187092318	2:20,112,788	A/T	—	likely benign
rs957614	2:20,112,796	C/T	—	benign
rs116951767	2:20,112,832	G/A	—	benign
rs886055401	2:20,112,939	C/T	—	uncertain significance
rs1404107870	2:20,113,014	A/G	—	uncertain significance
rs886891593	2:20,113,022	T/C	—	uncertain significance
rs994131640	2:20,113,048	T/C	—	uncertain significance
rs1056233	2:20,113,088	G/T	—	benign
rs6748924	2:20,113,221	A/G	—	benign
rs1669898811	2:20,113,303	A/G	—	uncertain significance
rs189980993	2:20,113,313	A/C	—	likely benign
rs1475940439	2:20,113,337	G/T	—	uncertain significance
rs2527797964	2:20,113,347	C/A	—	uncertain significance
rs147325795	2:20,113,365	A/C	—	conflicting classifications of pathogenicity
rs1669900626	2:20,113,368	T/G	—	uncertain significance
rs774768083	2:20,113,372	G/C	—	uncertain significance
rs1669900971	2:20,113,377	A/C	—	uncertain significance
rs759903398	2:20,113,378	G/A	—	uncertain significance
rs767858165	2:20,113,384	C/T	—	uncertain significance
rs760064395	2:20,113,393	A/G	—	uncertain significance
rs1484295924	2:20,113,405	T/A	—	uncertain significance
rs1553313859	2:20,113,406	C/A	—	pathogenic
rs978909925	2:20,113,420	C/T	—	uncertain significance
rs1558317742	2:20,113,434	C/T	—	uncertain significance
rs779811806	2:20,113,436	T/C	—	likely benign
rs1558317812	2:20,113,447	A/G	—	uncertain significance
rs771077097	2:20,113,460	C/T	—	uncertain significance
rs774573858	2:20,113,465	C/T	—	uncertain significance

Showing 100 of 614 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.