FAT4

FAT atypical cadherin 4

Summary

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]

Known Variants2,397 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7677005	4:126,237,241	G/A	—	benign
rs942468629	4:126,237,576	G/A	—	uncertain significance
rs1227767047	4:126,237,590	T/C	—	likely benign
rs2530417942	4:126,237,591	A/T	—	uncertain significance
rs2125938137	4:126,237,603	T/C	—	uncertain significance
rs776734172	4:126,237,608	C/G	—	likely benign
rs375956663	4:126,237,610	C/G	—	uncertain significance
rs1447675960	4:126,237,621	C/T	—	likely benign
rs369059252	4:126,237,626	A/G	—	likely benign
rs1730593999	4:126,237,627	G/C	—	uncertain significance
rs2530418316	4:126,237,644	A/G	—	likely benign
rs560877653	4:126,237,647	G/A	—	likely benign
rs2530418347	4:126,237,655	T/C	—	uncertain significance
rs753444272	4:126,237,656	A/G	—	likely benign
rs756659900	4:126,237,657	C/T	—	likely benign
rs771880495	4:126,237,670	C/T	—	uncertain significance
rs1730597475	4:126,237,671	G/C	—	likely benign
rs2125938253	4:126,237,681	T/C	—	uncertain significance
rs1730598491	4:126,237,686	C/T	—	likely benign
rs776704293	4:126,237,690	G/C	—	uncertain significance
rs769721255	4:126,237,695	C/G	—	likely benign
rs200221425	4:126,237,697	A/C	—	conflicting classifications of pathogenicity
rs763601689	4:126,237,698	G/C	—	uncertain significance
rs766959653	4:126,237,700	C/A	—	conflicting classifications of pathogenicity
rs763847574	4:126,237,706	A/G	—	uncertain significance
rs1456423170	4:126,237,707	G/A	—	likely benign
rs1396893351	4:126,237,710	G/A	—	likely benign
rs2530418736	4:126,237,713	C/T	—	likely benign
rs1393793660	4:126,237,717	G/C	—	uncertain significance
rs1730603395	4:126,237,718	T/G	—	uncertain significance
rs1355443607	4:126,237,721	T/C	—	uncertain significance
rs1378589321	4:126,237,730	A/G	—	uncertain significance
rs1730604770	4:126,237,735	C/G	—	uncertain significance
rs377541040	4:126,237,738	G/A	—	uncertain significance
rs749929736	4:126,237,739	G/T	—	uncertain significance
rs757284999	4:126,237,742	C/T	—	uncertain significance
rs201009019	4:126,237,751	G/C	—	conflicting classifications of pathogenicity
rs754711855	4:126,237,754	C/T	—	uncertain significance
rs748267294	4:126,237,758	C/G	—	uncertain significance
rs1176248560	4:126,237,763	C/T	—	uncertain significance
rs770033585	4:126,237,764	G/C	—	likely benign
rs2530419224	4:126,237,779	C/T	—	likely benign
rs771620229	4:126,237,783	A/G	—	uncertain significance
rs2530419279	4:126,237,788	C/T	—	likely benign
rs2530419291	4:126,237,791	C/T	—	likely benign
rs1302175421	4:126,237,800	C/A	—	uncertain significance
rs767730943	4:126,237,801	G/T	—	conflicting classifications of pathogenicity
rs761423355	4:126,237,803	C/T	—	likely benign
rs375241448	4:126,237,813	A/G	—	uncertain significance
rs1277663930	4:126,237,819	A/G	—	uncertain significance
rs754859570	4:126,237,827	C/T	—	likely benign
rs1191614275	4:126,237,828	G/A	—	uncertain significance
rs2125938508	4:126,237,836	G/A	—	likely benign
rs202107203	4:126,237,849	A/T	—	uncertain significance
rs778038668	4:126,237,852	A/G	—	uncertain significance
rs550276251	4:126,237,866	C/G	—	uncertain significance
rs746331785	4:126,237,882	A/T	—	uncertain significance
rs772612640	4:126,237,887	C/A	—	uncertain significance
rs2530420033	4:126,237,888	C/T	—	likely benign
rs1248289171	4:126,237,893	G/A	—	likely benign
rs1192577715	4:126,237,899	T/C	—	likely benign
rs371791194	4:126,237,916	A/T	—	uncertain significance
rs1730619478	4:126,237,917	C/T	—	likely benign
rs759429066	4:126,237,933	G/C	—	uncertain significance
rs755876892	4:126,237,943	G/A	—	uncertain significance
rs777858835	4:126,237,948	C/T	—	uncertain significance
rs754070949	4:126,237,952	A/G	—	uncertain significance
rs373639016	4:126,237,956	C/G	—	uncertain significance
rs779185794	4:126,237,959	C/T	—	likely benign
rs1560751923	4:126,237,966	G/T	—	uncertain significance
rs72928772	4:126,237,971	C/T	—	benign
rs772884777	4:126,237,983	T/C	—	likely benign
rs1730623781	4:126,237,984	A/G	—	uncertain significance
rs762641926	4:126,237,994	C/T	—	uncertain significance
rs1003177796	4:126,238,012	G/A	—	uncertain significance
rs745934649	4:126,238,024	A/G	—	uncertain significance
rs759072210	4:126,238,035	G/T	—	uncertain significance
rs767365327	4:126,238,039	C/G	—	uncertain significance
rs2125938762	4:126,238,041	G/T	—	uncertain significance
rs536273288	4:126,238,052	G/A	—	likely benign
rs2530421121	4:126,238,067	C/T	—	likely benign
rs554549454	4:126,238,068	G/C	—	uncertain significance
rs2530421271	4:126,238,084	C/T	—	uncertain significance
rs2530421298	4:126,238,088	C/T	—	likely benign
rs750530580	4:126,238,089	C/A	—	uncertain significance
rs143534324	4:126,238,090	G/T	—	likely benign
rs2125938821	4:126,238,091	C/T	—	likely benign
rs1309666666	4:126,238,094	C/G	—	uncertain significance
rs201952959	4:126,238,098	C/A	—	uncertain significance
rs748505773	4:126,238,101	G/A	—	uncertain significance
rs770627566	4:126,238,105	A/G	—	uncertain significance
rs558736544	4:126,238,110	G/T	—	uncertain significance
rs771566742	4:126,238,114	G/A	—	uncertain significance
rs775309368	4:126,238,116	C/G	—	uncertain significance
rs577129552	4:126,238,122	C/T	—	uncertain significance
rs1278574694	4:126,238,131	A/T	—	uncertain significance
rs2530421690	4:126,238,134	A/G	—	uncertain significance
rs1179594809	4:126,238,135	C/T	—	uncertain significance
rs2530421716	4:126,238,138	T/C	—	uncertain significance
rs1352317490	4:126,238,144	C/T	—	uncertain significance

Showing 100 of 2,397 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.