WNT4

Wnt family member 4

Summary

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]

Known Variants94 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs186736215	1:22,444,276	C/T	—	—
rs1422086618	1:22,446,552	C/T	—	likely benign
rs201176310	1:22,446,566	C/T	—	uncertain significance
rs774167732	1:22,446,567	G/A	—	likely benign
rs745636495	1:22,446,571	C/T	—	uncertain significance
rs867647835	1:22,446,583	C/T	—	uncertain significance
rs1645882048	1:22,446,588	C/T	—	likely benign
rs775511723	1:22,446,593	C/T	—	uncertain significance
rs760824817	1:22,446,594	G/A	—	likely benign
rs762450084	1:22,446,642	C/G	—	uncertain significance
rs112942159	1:22,446,645	C/T	—	likely benign
rs750875648	1:22,446,646	G/A	—	uncertain significance
rs763405712	1:22,446,648	C/T	—	likely benign
rs1334778982	1:22,446,655	A/C	—	uncertain significance
rs575232335	1:22,446,659	C/T	—	uncertain significance
rs144341542	1:22,446,660	G/A	—	likely benign
rs753310272	1:22,446,661	C/T	—	uncertain significance
rs145992184	1:22,446,687	G/A	—	likely benign
rs780347824	1:22,446,689	C/T	—	uncertain significance
rs112452625	1:22,446,690	G/A	—	likely benign
rs139205770	1:22,446,702	C/A	—	likely benign
rs1645884080	1:22,446,709	T/G	—	uncertain significance
rs1215767738	1:22,446,718	C/T	—	uncertain significance
rs368885409	1:22,446,724	C/G	—	conflicting classifications of pathogenicity
rs544988174	1:22,446,738	G/A	—	likely benign
rs752422609	1:22,446,740	C/T	—	uncertain significance
rs1645884577	1:22,446,742	C/T	—	uncertain significance
rs142042206	1:22,446,745	C/T	—	uncertain significance
rs34228276	1:22,446,768	G/A	—	benign
rs145169034	1:22,446,782	A/G	—	likely benign
rs201963772	1:22,446,798	A/T	—	likely benign
rs769935088	1:22,446,800	C/T	—	uncertain significance
rs1488839503	1:22,446,833	C/T	—	uncertain significance
rs140080433	1:22,446,860	G/A	—	uncertain significance
rs924091975	1:22,446,932	C/T	—	uncertain significance
rs377198447	1:22,446,942	C/T	—	likely benign
rs121908650	1:22,446,952	T/C	missense variant	pathogenic
rs150242481	1:22,446,972	G/A	—	conflicting classifications of pathogenicity
rs201795376	1:22,446,999	T/C	—	likely benign
rs12756110	1:22,447,148	G/C	—	benign
rs3765350	1:22,447,316	A/G	intron variant	benign
rs10753529	1:22,447,523	A/G	—	benign
rs1190262266	1:22,447,689	G/T	—	likely benign
rs2522376443	1:22,447,701	T/C	—	uncertain significance
rs2124099933	1:22,447,731	G/T	—	uncertain significance
rs747379070	1:22,447,736	T/C	—	uncertain significance
rs143835757	1:22,447,752	C/T	—	benign
rs773957208	1:22,447,753	G/A	—	uncertain significance
rs149600184	1:22,447,809	G/A	—	likely benign
rs12067696	1:22,447,821	G/A	—	benign
rs139165736	1:22,447,940	T/C	—	benign
rs371794096	1:22,447,987	C/T	—	likely benign
rs1386038615	1:22,448,000	C/T	—	uncertain significance
rs1557923349	1:22,448,037	A/G	—	uncertain significance
rs1301251364	1:22,448,039	A/G	—	uncertain significance
rs121908651	1:22,448,042	G/A	missense variant	pathogenic
rs139045509	1:22,448,044	G/A	—	likely benign
rs371165935	1:22,448,062	C/T	—	likely benign
rs758187359	1:22,448,063	C/T	—	uncertain significance
rs1645899028	1:22,448,078	G/A	—	likely benign
rs12131703	1:22,448,217	C/T	—	benign
rs2235529	1:22,450,487	C/T	intron variant	—
rs185711195	1:22,451,620	C/G	intron variant	—
rs7526484	1:22,451,845	T/C	intron variant	—
rs374186946	1:22,456,091	C/T	—	likely benign
rs372735339	1:22,456,099	C/A	—	likely benign
rs377491760	1:22,456,127	C/T	—	uncertain significance
rs760357534	1:22,456,133	C/T	—	uncertain significance
rs566208847	1:22,456,134	G/A	—	likely benign
rs2124118375	1:22,456,144	T/A	—	uncertain significance
rs761324441	1:22,456,145	C/T	—	uncertain significance
rs16826648	1:22,456,146	G/C	—	likely benign
rs368808392	1:22,456,174	C/T	—	uncertain significance
rs121908652	1:22,456,175	G/A	missense variant	pathogenic
rs201024257	1:22,456,184	A/G	—	uncertain significance
rs557427439	1:22,456,219	C/T	—	uncertain significance
rs772566671	1:22,456,224	C/T	—	likely benign
rs759336061	1:22,456,246	C/T	—	uncertain significance
rs1645968697	1:22,456,258	T/G	—	uncertain significance
rs757851512	1:22,456,294	C/T	—	uncertain significance
rs779327911	1:22,456,296	C/G	—	likely benign
rs780854894	1:22,456,304	C/G	—	uncertain significance
rs747875232	1:22,456,305	C/T	—	likely benign
rs144407094	1:22,456,326	C/T	—	likely benign
rs542939145	1:22,456,356	G/T	—	likely benign
rs761003733	1:22,456,362	C/T	—	likely benign
rs4655025	1:22,459,754	A/G	intron variant	—
rs12037376	1:22,462,111	G/A	intron variant	—
rs3820282	1:22,468,215	C/G	—	—
rs1341391695	1:22,469,320	C/T	—	likely benign
rs121908653	1:22,469,381	A/G	missense variant	pathogenic
rs1033275281	1:22,469,391	A/C	—	uncertain significance
rs56318008	1:22,470,407	C/T	upstream gene variant	—
rs55938609	1:22,470,451	G/C	upstream gene variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.