PMFBP1

polyamine modulated factor 1 binding protein 1

Summary

Involved in spermatogenesis. Located in sperm head-tail coupling apparatus. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants101 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7186117	16:72,153,235	T/A	—	benign
rs370319198	16:72,153,241	C/T	—	uncertain significance
rs2507158540	16:72,153,854	G/A	—	uncertain significance
rs528822854	16:72,153,872	G/A	—	uncertain significance
rs140855302	16:72,153,972	T/C	—	uncertain significance
rs72787072	16:72,154,010	C/T	—	benign
rs79536331	16:72,156,672	T/C	intron variant	—
rs145734065	16:72,156,841	A/C	—	uncertain significance
rs16973716	16:72,156,842	G/T	—	benign
rs140352254	16:72,156,856	G/A	—	pathogenic
rs187446370	16:72,157,437	A/G	—	likely benign
rs769293377	16:72,157,496	C/A	—	uncertain significance
rs72787078	16:72,158,493	C/T	intron variant	—
rs769233423	16:72,158,674	C/T	—	uncertain significance
rs2507189018	16:72,158,682	A/G	—	uncertain significance
rs1182266315	16:72,158,720	C/G	—	uncertain significance
rs373280693	16:72,158,768	G/C	—	uncertain significance
rs190053414	16:72,159,183	G/A	—	likely benign
rs777377632	16:72,159,217	T/C	—	uncertain significance
rs761844868	16:72,159,237	G/T	—	uncertain significance
rs2507195486	16:72,159,291	G/A	—	uncertain significance
rs35278932	16:72,159,302	G/A	—	benign
rs775573774	16:72,159,888	G/T	—	uncertain significance
rs1419782117	16:72,159,893	C/A	—	uncertain significance
rs140817504	16:72,160,006	A/G	—	uncertain significance
rs562267882	16:72,162,580	T/A	—	uncertain significance
rs921369945	16:72,162,583	C/G	—	uncertain significance
rs34832584	16:72,162,966	G/T	—	benign
rs372243897	16:72,162,978	T/C	—	uncertain significance
rs767705612	16:72,163,027	C/A	—	likely pathogenic
rs750469082	16:72,163,030	G/A	—	uncertain significance
rs190448119	16:72,163,045	T/C	—	uncertain significance
rs200795516	16:72,163,090	G/C	—	uncertain significance
rs1004308362	16:72,163,098	T/G	—	uncertain significance
rs138147953	16:72,164,125	C/T	—	likely benign
rs2507226632	16:72,164,177	G/A	—	uncertain significance
rs144092086	16:72,164,240	G/C	—	likely benign
rs374886695	16:72,164,252	G/A	—	uncertain significance
rs140852275	16:72,164,475	G/T	—	uncertain significance
rs753438762	16:72,164,487	G/C	—	uncertain significance
rs752285170	16:72,164,496	G/C	—	uncertain significance
rs751302049	16:72,164,532	G/T	—	uncertain significance
rs777263062	16:72,164,607	G/A	—	pathogenic
rs4788609	16:72,165,986	C/G	—	—
rs756028087	16:72,166,677	C/T	—	uncertain significance
rs761470750	16:72,166,743	C/A	—	uncertain significance
rs756492066	16:72,166,823	A/T	—	uncertain significance
rs776508395	16:72,166,879	C/T	—	likely benign
rs80275278	16:72,167,640	T/A	intron variant	—
rs12925881	16:72,169,275	T/G	—	—
rs775559064	16:72,170,409	G/A	—	uncertain significance
rs766550189	16:72,170,435	T/A	—	uncertain significance
rs754241357	16:72,170,437	C/T	—	likely benign
rs147286664	16:72,170,469	G/A	—	likely benign
rs768430581	16:72,170,492	A/G	—	uncertain significance
rs776632196	16:72,170,618	G/A	—	uncertain significance
rs149368238	16:72,170,628	C/T	—	uncertain significance
rs749907035	16:72,170,634	C/T	—	uncertain significance
rs2042638587	16:72,170,642	A/G	—	uncertain significance
rs772755192	16:72,173,189	T/C	—	uncertain significance
rs150625465	16:72,173,192	T/C	—	uncertain significance
rs375907693	16:72,173,211	C/T	—	uncertain significance
rs561259190	16:72,173,219	C/T	—	uncertain significance
rs752533522	16:72,173,223	G/A	—	uncertain significance
rs779255366	16:72,173,253	C/T	—	uncertain significance
rs763272588	16:72,173,265	G/A	—	pathogenic
rs758732718	16:72,174,316	C/T	—	uncertain significance
rs748769314	16:72,174,348	T/C	—	uncertain significance
rs149684797	16:72,174,349	G/C	—	uncertain significance
rs376937169	16:72,174,352	T/A	—	uncertain significance
rs1245280055	16:72,174,355	G/C	—	uncertain significance
rs372258882	16:72,174,411	T/C	—	uncertain significance
rs778219933	16:72,174,447	C/T	—	uncertain significance
rs180691625	16:72,181,729	C/A	intron variant	—
rs146909225	16:72,184,519	C/T	—	likely benign
rs35370634	16:72,184,566	C/T	—	benign
rs217180	16:72,184,629	T/C	—	benign
rs117953773	16:72,184,631	A/C	—	benign
rs36111057	16:72,184,642	G/A	—	likely benign
rs559425042	16:72,184,676	T/C	—	uncertain significance
rs186057269	16:72,187,633	T/C	intron variant	—
rs200435297	16:72,187,862	T/C	—	—
rs370732631	16:72,188,151	G/A	—	likely benign
rs142589139	16:72,188,189	C/T	—	uncertain significance
rs759127010	16:72,188,197	A/T	—	pathogenic
rs750524665	16:72,188,220	C/T	—	uncertain significance
rs146036420	16:72,188,247	G/A	—	uncertain significance
rs60201663	16:72,188,889	G/C	—	—
rs55673524	16:72,193,342	T/C	intron variant	—
rs2507218308	16:72,198,689	T/C	—	likely benign
rs769981758	16:72,198,696	C/A	—	uncertain significance
rs746971840	16:72,198,698	G/C	—	uncertain significance
rs7200153	16:72,216,789	C/A	intergenic variant	—
rs16970661	16:72,218,612	C/T	intergenic variant	—
rs7186908	16:72,220,373	G/A	—	—
rs80239990	16:72,228,639	C/T	intergenic variant	—
rs552943055	16:72,232,620	A/G	—	—
rs55771535	16:72,252,097	G/A	intergenic variant	—
rs35223533	16:72,252,544	A/T	intergenic variant	—
rs17668704	16:72,257,699	A/T	downstream gene variant	—

Showing 100 of 101 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.