FAM20A

FAM20A golgi associated secretory pathway pseudokinase

Summary

This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

Known Variants174 total

rsidPosition (GRCh37)AllelesClassClinVar
rs228655417:66,533,408C/T—benign
rs14945153517:66,533,629A/C—uncertain significance
rs14389308117:66,533,634G/A—likely benign
rs250946912217:66,533,644A/G—uncertain significance
rs290737317:66,533,655A/G—benign
rs78020875917:66,533,672G/A—likely benign
rs76248395517:66,533,675G/A—likely benign
rs36915770317:66,533,679A/G—uncertain significance
rs103622716917:66,533,699G/A—likely benign
rs55196570817:66,533,703A/T—likely benign
rs76967104717:66,533,742C/T—uncertain significance
rs250946968017:66,533,760A/G—uncertain significance
rs105175464917:66,533,765G/T—likely benign
rs18281692817:66,533,772G/A—likely benign
rs75415204917:66,533,813C/G—uncertain significance
rs131845714717:66,533,821C/T—uncertain significance
rs19144314717:66,533,846C/A—benign
rs14525823017:66,533,863A/G—likely benign
rs74548390817:66,533,866G/A—uncertain significance
rs228655617:66,533,979C/G—benign
rs1697303417:66,534,145A/G—benign
rs250947550917:66,535,463T/C—likely benign
rs75715525817:66,535,471A/G—likely benign
rs115657319017:66,535,477C/T—likely pathogenic
rs208619171117:66,535,482A/G—uncertain significance
rs7805043317:66,535,525G/A—likely benign
rs208619316417:66,535,530G/A—pathogenic
rs77355483517:66,535,533C/T—uncertain significance
rs228655717:66,535,746C/T—benign
rs208621196117:66,536,011C/T—likely benign
rs37075169117:66,536,012G/A—likely benign
rs250947846917:66,536,018A/C—likely benign
rs102946870417:66,536,019A/T—likely benign
rs250947849117:66,536,021C/T—uncertain significance
rs20059994417:66,536,033C/T—uncertain significance
rs37724066617:66,536,034G/A—conflicting classifications of pathogenicity
rs75977914617:66,536,041A/G—uncertain significance
rs120635805017:66,536,066C/T—uncertain significance
rs20068012417:66,536,085A/G—likely benign
rs37286401717:66,536,087A/G—likely benign
rs3401756117:66,536,095C/T—likely benign
rs14997039917:66,536,096G/A—likely pathogenic
rs76988794617:66,536,117A/G—likely benign
rs228655817:66,536,219C/G—benign
rs7644096917:66,536,294G/T—benign
rs201521217:66,536,749C/T—benign
rs37521976317:66,536,975C/T—likely benign
rs37343159217:66,536,999A/G—uncertain significance
rs228655917:66,537,003G/A—benign
rs14913942017:66,537,035G/A—uncertain significance
rs250948456317:66,537,036C/T—likely benign
rs77191291217:66,537,040C/T—uncertain significance
rs98036529517:66,537,048G/A—likely benign
rs36964970217:66,537,051C/T—likely benign
rs250948538117:66,537,107G/T—likely benign
rs14070243617:66,537,151C/T—benign
rs7901141417:66,537,295G/A—benign
rs228656017:66,537,304G/A—benign
rs228656117:66,537,374G/T—benign
rs37604633017:66,538,115G/C—likely benign
rs77992872817:66,538,116A/C—likely benign
rs37039799617:66,538,120A/C—uncertain significance
rs95604942917:66,538,141A/G—uncertain significance
rs76950829017:66,538,153C/T—uncertain significance
rs13887854617:66,538,164G/A—likely benign
rs14211388017:66,538,180C/T—uncertain significance
rs14582584917:66,538,197G/A—likely benign
rs52985462017:66,538,200C/T—likely benign
rs3587110117:66,538,223C/T—uncertain significance
rs131518699417:66,538,231A/C—uncertain significance
rs230223417:66,538,239G/T—benign
rs98167303417:66,538,243C/T—uncertain significance
rs37463354717:66,538,251A/G—likely benign
rs15050818917:66,538,260C/T—likely benign
rs77062051517:66,538,261G/A—uncertain significance
rs77239976717:66,538,282T/C—uncertain significance
rs250949588017:66,538,296C/T—likely benign
rs36799600117:66,538,299G/A—likely benign
rs137193312717:66,538,306G/A—uncertain significance
rs14140503817:66,538,318G/A—likely benign
rs208632863017:66,538,319G/A—likely benign
rs230223517:66,538,418G/A—benign
rs1697304217:66,538,819C/T—likely benign
rs76290513017:66,538,833A/G—likely pathogenic
rs75611323117:66,538,846A/G—uncertain significance
rs250950117717:66,538,878G/T—uncertain significance
rs101511489517:66,538,899G/A—likely benign
rs208636492017:66,538,916C/G—uncertain significance
rs991052817:66,539,012T/C—benign
rs7400075317:66,539,721G/A—benign
rs145227638017:66,539,766C/G—uncertain significance
rs214352530017:66,539,775C/T—likely benign
rs76252700417:66,539,778A/G—likely benign
rs13959183817:66,539,790G/A—likely benign
rs250950937717:66,539,797G/T—uncertain significance
rs11361182417:66,539,818A/G—likely benign
rs214352600617:66,539,824T/C—likely pathogenic
rs214352602817:66,539,825A/G—uncertain significance
rs121440989617:66,539,840G/A—uncertain significance
rs228656217:66,539,847T/C—benign

Showing 100 of 174 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.