PGRMC1

progesterone receptor membrane component 1

Summary

This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]

Known Variants16 total

rsidPosition (GRCh37)AllelesClassClinVar
rs35731236X:118,370,470G/Abenign
rs145582672X:118,370,489G/Amissense variant
rs1327649337X:118,370,516C/Tuncertain significance
rs775275197X:118,370,537C/Tuncertain significance
rs2521029188X:118,370,550C/Guncertain significance
rs768609516X:118,370,552G/Tuncertain significance
rs754289545X:118,370,597A/Tuncertain significance
rs776947628X:118,370,598T/Clikely pathogenic
rs778585877X:118,374,334G/Cuncertain significance
rs1158969668X:118,374,335A/Tuncertain significance
rs1334781963X:118,374,361G/Clikely pathogenic
rs147630867X:118,377,123A/Glikely benign
rs201254642X:118,377,162C/Tuncertain significance
rs146461802X:118,377,165T/Cuncertain significance
rs756144742X:118,384,037G/Alikely benign
rs746648732X:118,384,249G/Alikely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.