SFTPA1

surfactant protein A1

Summary

This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Known Variants69 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76556043410:81,371,402T/A—likely benign
rs75804297010:81,371,403G/A—likely benign
rs399777410:81,371,406G/A—likely benign
rs267855310:81,371,421A/T—benign
rs249244584510:81,371,599G/T—likely benign
rs13989987310:81,371,607A/C—likely benign
rs105904710:81,371,637T/C—likely benign
rs76510067610:81,371,653C/T—likely benign
rs249244674610:81,371,655T/A—uncertain significance
rs105751853410:81,371,672G/C—uncertain significance
rs55243623010:81,371,680C/T—likely benign
rs7265939010:81,371,698C/T—benign
rs74640976610:81,371,701C/A—likely benign
rs75866007510:81,371,704G/A—likely benign
rs20094173610:81,371,716C/G—uncertain significance
rs113645010:81,371,729C/Gmissense variantlikely benign
rs15124291110:81,372,080C/T—likely benign
rs113645110:81,372,081A/Gsynonymous variantbenign
rs129891753410:81,372,121C/T—uncertain significance
rs113645210:81,372,166C/G—benign
rs55525868210:81,372,172G/A—uncertain significance
rs158923972210:81,372,187G/A—uncertain significance
rs425351510:81,372,445T/C—benign
rs255972810:81,372,502T/A—benign
rs425351910:81,372,687A/G—benign
rs425352010:81,372,708G/A—benign
rs425352110:81,372,712G/T—benign
rs78119214010:81,372,989G/A—uncertain significance
rs105905610:81,372,994T/C—likely benign
rs36770608010:81,372,996G/T—uncertain significance
rs425352410:81,373,182G/C—benign
rs37674203510:81,373,487T/C—likely benign
rs14179524510:81,373,520C/T—uncertain significance
rs105905710:81,373,521A/G—benign
rs399777710:81,373,542C/T—likely benign
rs75661854410:81,373,562C/G—uncertain significance
rs77145661310:81,373,578G/A—likely benign
rs77384806610:81,373,599C/A—likely benign
rs37312037310:81,373,604G/A—conflicting classifications of pathogenicity
rs158924125410:81,373,620G/A—likely benign
rs249247083410:81,373,642A/G—uncertain significance
rs121531672710:81,373,654G/A—pathogenic
rs76763310510:81,373,664A/T—uncertain significance
rs425352610:81,373,674T/C—benign
rs13980672610:81,373,699C/T—uncertain significance
rs56471352110:81,373,717C/T—uncertain significance
rs105905810:81,373,728C/T—likely benign
rs76179608410:81,373,743C/G—uncertain significance
rs213213996510:81,373,744T/C—pathogenic
rs155485465610:81,373,748C/A—uncertain significance
rs15021454710:81,373,752C/G—likely benign
rs213214005810:81,373,753T/C—pathogenic
rs186002116510:81,373,755G/T—uncertain significance
rs36916550510:81,373,759C/T—uncertain significance
rs87665799810:81,373,768C/G—uncertain significance
rs1035110:81,373,770C/T—benign
rs87665800010:81,373,771G/A—uncertain significance
rs425352710:81,373,777C/Tmissense variantuncertain significance
rs37294181010:81,373,778G/T—uncertain significance
rs39772820110:81,373,789C/A—uncertain significance
rs213214060710:81,373,795G/A—pathogenic
rs87665799910:81,373,799A/G—uncertain significance
rs74766154510:81,373,811A/C—uncertain significance
rs425352810:81,373,846C/T—uncertain significance
rs116080792010:81,373,847G/A—uncertain significance
rs294543910:81,374,082T/C—benign
rs165022010:81,374,083C/A—benign
rs425352910:81,374,118C/A—benign
rs425360310:81,374,592G/C——

Gene information from NCBI Gene. Variant classifications from ClinVar.