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

rsidPosition (GRCh37)AllelesClassClinVar
rs718611716:72,153,235T/A—benign
rs37031919816:72,153,241C/T—uncertain significance
rs250715854016:72,153,854G/A—uncertain significance
rs52882285416:72,153,872G/A—uncertain significance
rs14085530216:72,153,972T/C—uncertain significance
rs7278707216:72,154,010C/T—benign
rs7953633116:72,156,672T/Cintron variant—
rs14573406516:72,156,841A/C—uncertain significance
rs1697371616:72,156,842G/T—benign
rs14035225416:72,156,856G/A—pathogenic
rs18744637016:72,157,437A/G—likely benign
rs76929337716:72,157,496C/A—uncertain significance
rs7278707816:72,158,493C/Tintron variant—
rs76923342316:72,158,674C/T—uncertain significance
rs250718901816:72,158,682A/G—uncertain significance
rs118226631516:72,158,720C/G—uncertain significance
rs37328069316:72,158,768G/C—uncertain significance
rs19005341416:72,159,183G/A—likely benign
rs77737763216:72,159,217T/C—uncertain significance
rs76184486816:72,159,237G/T—uncertain significance
rs250719548616:72,159,291G/A—uncertain significance
rs3527893216:72,159,302G/A—benign
rs77557377416:72,159,888G/T—uncertain significance
rs141978211716:72,159,893C/A—uncertain significance
rs14081750416:72,160,006A/G—uncertain significance
rs56226788216:72,162,580T/A—uncertain significance
rs92136994516:72,162,583C/G—uncertain significance
rs3483258416:72,162,966G/T—benign
rs37224389716:72,162,978T/C—uncertain significance
rs76770561216:72,163,027C/A—likely pathogenic
rs75046908216:72,163,030G/A—uncertain significance
rs19044811916:72,163,045T/C—uncertain significance
rs20079551616:72,163,090G/C—uncertain significance
rs100430836216:72,163,098T/G—uncertain significance
rs13814795316:72,164,125C/T—likely benign
rs250722663216:72,164,177G/A—uncertain significance
rs14409208616:72,164,240G/C—likely benign
rs37488669516:72,164,252G/A—uncertain significance
rs14085227516:72,164,475G/T—uncertain significance
rs75343876216:72,164,487G/C—uncertain significance
rs75228517016:72,164,496G/C—uncertain significance
rs75130204916:72,164,532G/T—uncertain significance
rs77726306216:72,164,607G/A—pathogenic
rs478860916:72,165,986C/G——
rs75602808716:72,166,677C/T—uncertain significance
rs76147075016:72,166,743C/A—uncertain significance
rs75649206616:72,166,823A/T—uncertain significance
rs77650839516:72,166,879C/T—likely benign
rs8027527816:72,167,640T/Aintron variant—
rs1292588116:72,169,275T/G——
rs77555906416:72,170,409G/A—uncertain significance
rs76655018916:72,170,435T/A—uncertain significance
rs75424135716:72,170,437C/T—likely benign
rs14728666416:72,170,469G/A—likely benign
rs76843058116:72,170,492A/G—uncertain significance
rs77663219616:72,170,618G/A—uncertain significance
rs14936823816:72,170,628C/T—uncertain significance
rs74990703516:72,170,634C/T—uncertain significance
rs204263858716:72,170,642A/G—uncertain significance
rs77275519216:72,173,189T/C—uncertain significance
rs15062546516:72,173,192T/C—uncertain significance
rs37590769316:72,173,211C/T—uncertain significance
rs56125919016:72,173,219C/T—uncertain significance
rs75253352216:72,173,223G/A—uncertain significance
rs77925536616:72,173,253C/T—uncertain significance
rs76327258816:72,173,265G/A—pathogenic
rs75873271816:72,174,316C/T—uncertain significance
rs74876931416:72,174,348T/C—uncertain significance
rs14968479716:72,174,349G/C—uncertain significance
rs37693716916:72,174,352T/A—uncertain significance
rs124528005516:72,174,355G/C—uncertain significance
rs37225888216:72,174,411T/C—uncertain significance
rs77821993316:72,174,447C/T—uncertain significance
rs18069162516:72,181,729C/Aintron variant—
rs14690922516:72,184,519C/T—likely benign
rs3537063416:72,184,566C/T—benign
rs21718016:72,184,629T/C—benign
rs11795377316:72,184,631A/C—benign
rs3611105716:72,184,642G/A—likely benign
rs55942504216:72,184,676T/C—uncertain significance
rs18605726916:72,187,633T/Cintron variant—
rs20043529716:72,187,862T/C——
rs37073263116:72,188,151G/A—likely benign
rs14258913916:72,188,189C/T—uncertain significance
rs75912701016:72,188,197A/T—pathogenic
rs75052466516:72,188,220C/T—uncertain significance
rs14603642016:72,188,247G/A—uncertain significance
rs6020166316:72,188,889G/C——
rs5567352416:72,193,342T/Cintron variant—
rs250721830816:72,198,689T/C—likely benign
rs76998175816:72,198,696C/A—uncertain significance
rs74697184016:72,198,698G/C—uncertain significance
rs720015316:72,216,789C/Aintergenic variant—
rs1697066116:72,218,612C/Tintergenic variant—
rs718690816:72,220,373G/A——
rs8023999016:72,228,639C/Tintergenic variant—
rs55294305516:72,232,620A/G——
rs5577153516:72,252,097G/Aintergenic variant—
rs3522353316:72,252,544A/Tintergenic variant—
rs1766870416:72,257,699A/Tdownstream gene variant—

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

Gene information from NCBI Gene. Variant classifications from ClinVar.