LTBP4

latent transforming growth factor beta binding protein 4

Summary

The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Known Variants857 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5601393719:41,098,871T/C—benign
rs125036477719:41,099,073T/C—uncertain significance
rs119722212319:41,099,080C/T—likely benign
rs14058766419:41,099,081G/A—uncertain significance
rs37479150119:41,099,105C/T—likely benign
rs1108356119:41,101,981T/G——
rs7304796319:41,102,876C/T—benign
rs18493578819:41,103,248G/A—likely benign
rs18739148519:41,103,254C/A—benign
rs146100557419:41,103,296C/T—likely benign
rs7923520619:41,103,322A/G—likely benign
rs186407819:41,104,758G/T——
rs186407419:41,104,860G/T—benign
rs5581526319:41,104,977C/T—benign
rs37661718419:41,105,084T/C—likely benign
rs208140685419:41,105,090C/G—likely benign
rs117077720719:41,105,103C/T—uncertain significance
rs124500804219:41,105,104G/A—likely benign
rs76928150119:41,105,111T/C—uncertain significance
rs20000186819:41,105,154C/T—uncertain significance
rs75926751019:41,105,155A/C—likely benign
rs37232810619:41,105,157C/T—uncertain significance
rs7354496019:41,105,252G/A—likely benign
rs251533255119:41,105,306A/G—uncertain significance
rs78173545719:41,105,307G/A—pathogenic
rs18879561319:41,105,310C/G—likely benign
rs37069627219:41,105,311C/T—likely benign
rs251533260719:41,105,329T/C—uncertain significance
rs57611252019:41,105,342G/A—uncertain significance
rs53707515919:41,105,357A/G—uncertain significance
rs37472682119:41,105,363G/A—uncertain significance
rs76540025919:41,105,365G/A—uncertain significance
rs75046386319:41,105,372C/T—uncertain significance
rs55852557319:41,105,376G/A—likely benign
rs122941423719:41,105,378G/T—uncertain significance
rs128786648319:41,105,386A/T—uncertain significance
rs75535134319:41,105,391A/C—likely benign
rs20116998719:41,105,395C/T—uncertain significance
rs37344502819:41,105,404C/T—uncertain significance
rs208140907419:41,105,415C/T—likely benign
rs20095112619:41,105,426G/A—uncertain significance
rs251533288219:41,105,431A/C—likely benign
rs88605444319:41,105,445C/A—uncertain significance
rs214601270619:41,105,464T/G—not provided
rs36965836119:41,105,475T/A—likely benign
rs75177831719:41,105,476C/T—likely benign
rs14683187519:41,105,760A/C—likely benign
rs18081005619:41,105,789T/C—likely benign
rs6080748719:41,105,860G/A—benign
rs208141265919:41,105,960C/G—uncertain significance
rs129930085419:41,105,966C/T—likely benign
rs105751911019:41,105,971C/G—uncertain significance
rs95046754919:41,105,982A/G—uncertain significance
rs132618387019:41,105,987A/G—uncertain significance
rs74701350519:41,105,997——pathogenic
rs76829423419:41,106,003G/T—uncertain significance
rs251533422419:41,106,012C/G—uncertain significance
rs159985748219:41,106,015G/A—uncertain significance
rs208141320619:41,106,016G/C—uncertain significance
rs137227273419:41,106,022A/T—likely benign
rs121995778619:41,106,025G/C—likely benign
rs91710265219:41,106,029C/T—uncertain significance
rs93668900119:41,106,034A/G—likely benign
rs55328331919:41,106,047A/G—uncertain significance
rs88605444419:41,106,053C/G—uncertain significance
rs74787784419:41,106,058G/A—likely benign
rs134655533519:41,106,061T/C—likely benign
rs92723170119:41,106,067C/T—likely benign
rs214601373019:41,106,076G/A—likely benign
rs208141400019:41,106,077G/T—uncertain significance
rs251533448619:41,106,079C/A—likely benign
rs137246054219:41,106,081C/G—uncertain significance
rs18466252119:41,106,179C/T—likely benign
rs7910250119:41,106,184C/T—benign
rs219538619:41,107,205G/C—benign
rs219538519:41,107,208A/C—benign
rs76311263419:41,107,298C/T—conflicting classifications of pathogenicity
rs141730261719:41,107,307T/G—uncertain significance
rs129410742919:41,107,329A/G—likely benign
rs37061166119:41,107,416C/T—conflicting classifications of pathogenicity
rs18540039419:41,107,428C/T—likely benign
rs74650686119:41,107,504C/T—benign
rs11561422919:41,110,660G/A—likely benign
rs11615775319:41,110,718G/A—likely benign
rs124608160519:41,110,936C/T—likely benign
rs129371100819:41,110,959G/C—uncertain significance
rs77245914819:41,110,965A/G—uncertain significance
rs77581029619:41,110,973G/A—uncertain significance
rs20088866919:41,110,974T/C—uncertain significance
rs251534326519:41,110,975G/A—likely benign
rs54467119519:41,110,979G/C—uncertain significance
rs214602031219:41,110,985C/T—uncertain significance
rs76228601619:41,110,992G/A—uncertain significance
rs251534342119:41,111,021A/C—uncertain significance
rs136630396719:41,111,041C/G—likely benign
rs128015251619:41,111,042T/C—uncertain significance
rs74909296619:41,111,054C/T—uncertain significance
rs56289214719:41,111,061C/G—uncertain significance
rs230372919:41,111,069G/A—benign
rs37424830019:41,111,076G/C—uncertain significance

Showing 100 of 857 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.