MFAP5

microfibril associated protein 5

Summary

This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

Known Variants209 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs552513581	12:8,800,399	T/C	—	—
rs14541	12:8,800,566	G/A	—	benign
rs373632449	12:8,800,673	C/G	—	likely benign
rs751323740	12:8,800,683	A/G	—	likely benign
rs921121311	12:8,800,690	C/T	—	likely benign
rs758073813	12:8,800,696	A/T	—	uncertain significance
rs1042828478	12:8,800,697	T/C	—	conflicting classifications of pathogenicity
rs1441586150	12:8,800,700	G/A	—	uncertain significance
rs2540282363	12:8,800,702	T/C	—	likely benign
rs1220661226	12:8,800,730	G/A	—	uncertain significance
rs772494615	12:8,800,731	G/A	—	uncertain significance
rs372223418	12:8,800,735	T/C	—	likely benign
rs934344533	12:8,800,736	C/A	—	uncertain significance
rs727502791	12:8,800,737	G/A	stop gained	pathogenic
rs1052807907	12:8,800,745	T/C	—	uncertain significance
rs2540282694	12:8,800,746	T/C	—	uncertain significance
rs768885285	12:8,800,751	C/T	—	conflicting classifications of pathogenicity
rs761990899	12:8,800,754	C/T	—	uncertain significance
rs765205871	12:8,800,755	G/T	—	uncertain significance
rs2540282758	12:8,800,758	G/A	—	uncertain significance
rs2136457582	12:8,800,760	C/G	—	uncertain significance
rs746621366	12:8,800,763	C/A	—	uncertain significance
rs144375450	12:8,800,765	A/C	—	likely benign
rs148770543	12:8,800,767	G/A	—	conflicting classifications of pathogenicity
rs1216524899	12:8,800,768	G/T	—	likely benign
rs2540282872	12:8,800,774	A/T	—	likely benign
rs1565521133	12:8,800,779	C/A	—	uncertain significance
rs771757694	12:8,800,781	A/T	—	uncertain significance
rs767319138	12:8,800,787	C/T	—	uncertain significance
rs142380998	12:8,800,788	G/A	—	uncertain significance
rs1941736744	12:8,800,790	C/T	—	uncertain significance
rs1002670480	12:8,800,794	G/A	—	uncertain significance
rs990633066	12:8,800,797	C/G	—	uncertain significance
rs372458974	12:8,800,805	A/G	—	likely benign
rs151240610	12:8,800,817	C/T	—	likely benign
rs11611870	12:8,801,082	C/A	—	benign
rs558791836	12:8,801,085	A/G	—	Likely benign
rs781297401	12:8,801,917	C/A	—	benign
rs2289382	12:8,802,008	G/A	—	benign
rs778887600	12:8,802,079	A/G	—	likely benign
rs2540285697	12:8,802,105	G/C	—	uncertain significance
rs199578843	12:8,802,110	G/A	—	likely benign
rs374890052	12:8,802,111	T/A	—	uncertain significance
rs767358373	12:8,802,113	T/A	—	uncertain significance
rs752465187	12:8,802,120	C/T	—	uncertain significance
rs1941773955	12:8,802,123	A/G	—	uncertain significance
rs927906237	12:8,802,124	C/G	—	uncertain significance
rs540639689	12:8,802,130	G/A	—	uncertain significance
rs1200077591	12:8,802,135	C/G	—	uncertain significance
rs1941775175	12:8,802,139	T/A	—	uncertain significance
rs2540285958	12:8,802,141	T/G	—	uncertain significance
rs753315025	12:8,802,144	T/G	—	uncertain significance
rs756712055	12:8,802,146	G/C	—	uncertain significance
rs192822432	12:8,802,151	C/T	—	conflicting classifications of pathogenicity
rs781404692	12:8,802,152	G/C	—	uncertain significance
rs1941776470	12:8,802,153	A/G	—	uncertain significance
rs770619503	12:8,802,154	T/C	—	uncertain significance
rs2540286060	12:8,802,157	A/G	—	uncertain significance
rs769921511	12:8,802,158	C/T	—	uncertain significance
rs373421193	12:8,802,162	C/T	—	uncertain significance
rs748795143	12:8,802,163	G/A	—	conflicting classifications of pathogenicity
rs774489509	12:8,802,165	C/T	—	likely benign
rs376830567	12:8,802,166	G/A	—	conflicting classifications of pathogenicity
rs775163759	12:8,802,173	G/A	—	uncertain significance
rs760474089	12:8,802,178	C/T	—	likely benign
rs117523212	12:8,802,179	G/A	—	likely benign
rs2540286197	12:8,802,183	C/T	—	uncertain significance
rs752124786	12:8,802,185	G/A	—	likely benign
rs1015841546	12:8,802,186	T/G	—	likely benign
rs12813004	12:8,802,432	A/G	—	benign
rs2289383	12:8,802,856	C/T	—	benign
rs2289384	12:8,802,874	C/T	—	benign
rs2289385	12:8,802,962	C/A	—	benign
rs981430295	12:8,803,078	G/A	—	likely benign
rs1162445505	12:8,803,080	C/T	—	likely benign
rs2540288308	12:8,803,082	T/G	—	likely benign
rs1555137911	12:8,803,086	G/T	—	likely benign
rs2136461390	12:8,803,093	C/T	—	uncertain significance
rs764801456	12:8,803,094	T/C	—	uncertain significance
rs2540288362	12:8,803,095	T/C	—	uncertain significance
rs1390332398	12:8,803,106	G/A	—	likely benign
rs2540288412	12:8,803,114	G/A	—	uncertain significance
rs767940141	12:8,803,126	G/C	—	uncertain significance
rs1457814546	12:8,803,132	C/G	—	uncertain significance
rs1294533558	12:8,803,133	C/T	—	conflicting classifications of pathogenicity
rs756494536	12:8,803,137	C/T	—	likely benign
rs376156013	12:8,803,138	G/A	—	uncertain significance
rs754191345	12:8,803,140	T/C	—	uncertain significance
rs1565522628	12:8,803,141	G/A	—	uncertain significance
rs2540288541	12:8,803,142	C/A	—	likely benign
rs370536847	12:8,803,154	C/A	—	uncertain significance
rs2136461510	12:8,803,160	G/A	—	likely benign
rs2540288607	12:8,803,162	A/G	—	uncertain significance
rs150874917	12:8,803,163	G/C	—	likely benign
rs758477431	12:8,803,166	A/G	—	likely benign
rs1023523758	12:8,803,172	C/G	—	uncertain significance
rs779901395	12:8,803,174	C/T	—	uncertain significance
rs749178519	12:8,803,175	A/G	—	likely benign
rs776413783	12:8,803,181	G/C	—	uncertain significance
rs747879550	12:8,803,182	C/T	—	uncertain significance

Showing 100 of 209 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.