FRMPD4

FERM and PDZ domain containing 4

Summary

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

Known Variants292 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs941202	X:11,893,394	G/A	intergenic variant	—
rs2053794295	X:11,896,083	C/T	—	uncertain significance
rs1333358798	X:11,896,144	A/G	—	likely benign
rs144371252	X:12,114,921	G/A	intergenic variant	—
rs2518741775	X:12,157,134	A/G	—	uncertain significance
rs12840919	X:12,202,445	G/A	intron variant	—
rs7886206	X:12,240,100	C/T	intron variant	—
rs765188236	X:12,513,071	C/T	—	likely benign
rs765633648	X:12,516,790	C/A	—	conflicting classifications of pathogenicity
rs1483474215	X:12,516,819	G/A	—	uncertain significance
rs138335499	X:12,516,835	G/A	—	benign
rs146122430	X:12,516,882	C/T	—	likely benign
rs777880840	X:12,516,891	G/A	—	uncertain significance
rs764789717	X:12,627,852	G/C	—	uncertain significance
rs2059162987	X:12,627,863	T/A	—	uncertain significance
rs751347382	X:12,627,868	G/A	—	uncertain significance
rs2059163199	X:12,627,874	C/T	—	uncertain significance
rs1223671235	X:12,627,875	G/A	—	uncertain significance
rs754916455	X:12,627,881	A/G	—	uncertain significance
rs781143203	X:12,627,894	C/G	—	uncertain significance
rs779251615	X:12,627,903	G/A	—	likely benign
rs1166072644	X:12,627,911	G/A	—	uncertain significance
rs2059163980	X:12,627,919	G/A	—	uncertain significance
rs761069076	X:12,627,930	G/A	—	likely benign
rs769101701	X:12,627,936	C/T	—	likely benign
rs777298007	X:12,627,937	G/A	—	uncertain significance
rs2519489937	X:12,627,959	C/A	—	uncertain significance
rs2059164756	X:12,627,986	G/A	—	uncertain significance
rs777067245	X:12,632,916	A/C	—	uncertain significance
rs1456874698	X:12,632,958	C/T	—	uncertain significance
rs139449383	X:12,632,966	G/A	—	likely benign
rs2519510200	X:12,632,981	C/T	—	uncertain significance
rs2059220073	X:12,632,983	G/C	—	likely benign
rs2059220297	X:12,633,009	C/T	—	uncertain significance
rs2519724168	X:12,692,980	A/C	—	uncertain significance
rs2519724179	X:12,692,983	A/G	—	uncertain significance
rs2059881267	X:12,692,996	C/G	—	uncertain significance
rs942882398	X:12,693,008	C/A	—	uncertain significance
rs147360584	X:12,701,607	C/A	—	uncertain significance
rs2147106313	X:12,701,609	A/G	—	uncertain significance
rs777937320	X:12,701,661	C/G	—	likely benign
rs2519751931	X:12,701,696	G/C	—	uncertain significance
rs1263695778	X:12,701,705	C/T	—	uncertain significance
rs2060020376	X:12,704,222	G/A	—	uncertain significance
rs146493613	X:12,704,225	A/G	—	conflicting classifications of pathogenicity
rs759712041	X:12,704,272	G/A	—	uncertain significance
rs906030491	X:12,704,827	C/A	—	uncertain significance
rs1555895100	X:12,708,353	G/C	—	uncertain significance
rs7049642	X:12,708,373	C/G	—	likely benign
rs1569057837	X:12,712,496	C/T	—	pathogenic
rs2060107292	X:12,712,497	G/A	—	uncertain significance
rs991451035	X:12,712,507	C/T	—	likely benign
rs779596855	X:12,712,508	G/A	—	likely benign
rs2147124878	X:12,712,556	G/A	—	uncertain significance
rs2147124913	X:12,712,568	G/A	—	likely benign
rs2147124922	X:12,712,573	G/A	—	uncertain significance
rs2060108128	X:12,712,574	G/A	—	pathogenic
rs2519778985	X:12,712,576	A/T	—	uncertain significance
rs1602345888	X:12,719,996	T/C	—	uncertain significance
rs1339078580	X:12,720,018	G/A	—	uncertain significance
rs1257180179	X:12,720,026	C/A	—	uncertain significance
rs779013797	X:12,720,040	T/C	—	likely benign
rs1431144893	X:12,720,044	A/G	—	uncertain significance
rs142194011	X:12,720,080	G/A	—	likely benign
rs2519800917	X:12,720,081	C/T	—	uncertain significance
rs2147140188	X:12,720,098	C/G	—	uncertain significance
rs940360052	X:12,720,120	A/G	—	uncertain significance
rs1040001720	X:12,720,127	C/T	—	likely benign
rs2519801196	X:12,720,129	A/G	—	uncertain significance
rs2147140286	X:12,720,134	G/C	—	uncertain significance
rs760086099	X:12,720,136	G/A	—	uncertain significance
rs2519807297	X:12,722,477	G/A	—	likely pathogenic
rs2147144339	X:12,722,497	A/G	—	uncertain significance
rs2147144421	X:12,722,558	C/A	—	likely pathogenic
rs1238062249	X:12,722,578	C/A	—	uncertain significance
rs2147144484	X:12,722,579	A/G	—	uncertain significance
rs4469660	X:12,722,616	C/G	—	benign
rs140428359	X:12,724,965	G/A	—	likely benign
rs200736738	X:12,724,971	T/C	—	likely benign
rs939015475	X:12,724,981	T/C	—	uncertain significance
rs1602353928	X:12,725,588	C/G	—	uncertain significance
rs761605755	X:12,725,599	G/T	—	uncertain significance
rs750004207	X:12,725,604	C/T	—	uncertain significance
rs1216151567	X:12,725,630	C/T	—	uncertain significance
rs2041899970	X:12,725,635	T/A	—	likely pathogenic
rs201869535	X:12,725,698	C/T	—	likely benign
rs146561056	X:12,725,699	G/A	—	uncertain significance
rs6641078	X:12,725,701	C/G	—	benign
rs746014812	X:12,725,705	A/G	—	uncertain significance
rs747574742	X:12,725,711	G/T	—	pathogenic
rs2519817172	X:12,725,715	T/A	—	uncertain significance
rs761416670	X:12,725,723	G/A	—	uncertain significance
rs2041902858	X:12,725,725	G/A	—	likely benign
rs2519817364	X:12,725,747	G/C	—	uncertain significance
rs372073451	X:12,725,752	C/G	—	likely benign
rs752586467	X:12,725,755	C/G	—	uncertain significance
rs757368234	X:12,725,756	G/A	—	uncertain significance
rs7877197	X:12,725,779	C/T	—	benign
rs2041962927	X:12,728,519	C/G	—	uncertain significance
rs773949472	X:12,728,526	G/A	—	likely benign

Showing 100 of 292 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.