FGF23

fibroblast growth factor 23

Summary

This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]

Known Variants173 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs558079364	12:4,477,447	T/G	—	likely benign
rs140798293	12:4,477,538	A/G	—	benign
rs886049397	12:4,477,584	T/C	—	uncertain significance
rs183802802	12:4,477,623	G/T	—	conflicting classifications of pathogenicity
rs13312801	12:4,477,706	G/A	—	conflicting classifications of pathogenicity
rs13312800	12:4,477,737	C/T	—	conflicting classifications of pathogenicity
rs562433374	12:4,477,934	A/G	—	uncertain significance
rs762018989	12:4,477,961	A/C	—	uncertain significance
rs986708682	12:4,478,017	A/G	—	uncertain significance
rs114125104	12:4,478,038	G/T	—	benign
rs144700678	12:4,478,045	A/G	—	benign
rs11063112	12:4,478,080	T/A	3 prime UTR variant	benign
rs531815578	12:4,478,111	A/T	—	conflicting classifications of pathogenicity
rs886049398	12:4,478,157	A/G	—	uncertain significance
rs138576496	12:4,478,193	G/T	—	benign
rs897877189	12:4,478,217	G/A	—	uncertain significance
rs115582772	12:4,478,290	G/A	—	benign
rs1865034354	12:4,478,375	T/A	—	uncertain significance
rs13312798	12:4,478,430	T/C	—	benign
rs13312797	12:4,478,460	G/A	—	uncertain significance
rs71583766	12:4,478,511	G/C	—	likely benign
rs561820380	12:4,478,565	C/T	—	uncertain significance
rs886049399	12:4,478,653	G/C	—	uncertain significance
rs553998728	12:4,478,725	G/A	—	uncertain significance
rs886049400	12:4,478,845	T/A	—	uncertain significance
rs886049401	12:4,478,895	C/T	—	uncertain significance
rs80210924	12:4,478,956	G/T	—	benign
rs775907152	12:4,479,049	T/A	—	uncertain significance
rs13312795	12:4,479,121	C/T	—	likely benign
rs886049408	12:4,479,231	C/G	—	uncertain significance
rs566868058	12:4,479,274	G/A	—	conflicting classifications of pathogenicity
rs563817819	12:4,479,327	C/T	—	uncertain significance
rs886049409	12:4,479,328	A/G	—	uncertain significance
rs886049410	12:4,479,416	C/T	—	uncertain significance
rs71534281	12:4,479,480	G/C	—	likely benign
rs886049411	12:4,479,481	G/C	—	uncertain significance
rs13312794	12:4,479,486	A/C	—	benign
rs767227974	12:4,479,491	G/C	—	likely benign
rs1366319999	12:4,479,514	T/C	—	uncertain significance
rs2497235521	12:4,479,526	A/G	—	uncertain significance
rs200445443	12:4,479,531	C/T	—	uncertain significance
rs533960997	12:4,479,540	T/C	—	uncertain significance
rs201132379	12:4,479,545	G/A	—	likely benign
rs1865047897	12:4,479,548	C/A	—	likely benign
rs7955866	12:4,479,549	G/A	missense variant	benign
rs371972859	12:4,479,559	C/A	—	uncertain significance
rs760588246	12:4,479,572	T/C	—	likely benign
rs764061118	12:4,479,574	G/A	—	uncertain significance
rs753345321	12:4,479,577	C/T	—	uncertain significance
rs1033823201	12:4,479,579	C/T	—	uncertain significance
rs2497235702	12:4,479,586	C/T	—	uncertain significance
rs764669949	12:4,479,590	C/A	—	likely benign
rs2497235710	12:4,479,591	C/T	—	uncertain significance
rs750025882	12:4,479,592	C/T	—	uncertain significance
rs1865048977	12:4,479,603	C/T	—	uncertain significance
rs1555096532	12:4,479,621	T/C	—	uncertain significance
rs767171941	12:4,479,625	C/T	—	uncertain significance
rs371244880	12:4,479,628	C/T	—	uncertain significance
rs749770315	12:4,479,629	G/T	—	uncertain significance
rs387907425	12:4,479,642	T/C	—	uncertain significance
rs2120729506	12:4,479,647	A/G	—	likely benign
rs2497235835	12:4,479,650	G/A	—	likely benign
rs1429413031	12:4,479,656	C/A	—	likely benign
rs533026808	12:4,479,660	G/A	—	uncertain significance
rs749949273	12:4,479,662	C/T	—	likely benign
rs762634143	12:4,479,663	G/A	—	uncertain significance
rs199530638	12:4,479,667	T/C	—	uncertain significance
rs753097960	12:4,479,673	G/A	—	uncertain significance
rs2120729648	12:4,479,679	G/C	—	uncertain significance
rs13312793	12:4,479,682	G/A	—	likely benign
rs886042161	12:4,479,692	G/A	—	uncertain significance
rs190841442	12:4,479,706	G/A	—	uncertain significance
rs115283398	12:4,479,710	C/G	—	likely benign
rs780315628	12:4,479,711	G/A	—	uncertain significance
rs144925325	12:4,479,714	T/C	—	conflicting classifications of pathogenicity
rs768373820	12:4,479,715	C/T	—	uncertain significance
rs2120729846	12:4,479,725	G/T	—	uncertain significance
rs193922702	12:4,479,729	C/T	missense variant	pathogenic
rs28937882	12:4,479,730	G/A	missense variant	pathogenic
rs149058834	12:4,479,736	G/T	—	uncertain significance
rs104894347	12:4,479,738	C/G	missense variant	uncertain significance
rs754201217	12:4,479,739	G/A	—	pathogenic
rs573322878	12:4,479,750	G/A	—	conflicting classifications of pathogenicity
rs143050343	12:4,479,752	G/A	—	likely benign
rs965388598	12:4,479,779	G/A	—	likely benign
rs996901812	12:4,479,791	C/A	—	likely benign
rs769757583	12:4,479,795	A/T	—	uncertain significance
rs772964687	12:4,479,796	A/G	—	uncertain significance
rs2120730188	12:4,479,797	C/T	—	likely benign
rs749238943	12:4,479,801	G/C	—	uncertain significance
rs1865053647	12:4,479,807	G/C	—	uncertain significance
rs774018822	12:4,479,808	G/C	—	uncertain significance
rs759239607	12:4,479,814	G/C	—	uncertain significance
rs777052991	12:4,479,820	T/C	—	uncertain significance
rs13312792	12:4,479,842	C/A	—	likely benign
rs1384170096	12:4,479,847	G/A	—	uncertain significance
rs1865054870	12:4,479,851	C/G	—	uncertain significance
rs78679651	12:4,479,859	C/G	—	uncertain significance
rs104894344	12:4,479,879	G/A	missense variant	pathogenic
rs1555096583	12:4,479,880	A/G	—	pathogenic

Showing 100 of 173 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.