LRMDA

leucine rich melanocyte differentiation associated

Summary

This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

Known Variants135 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5592262810:77,191,441C/T——
rs13813715910:77,198,245C/T—benign
rs1100139810:77,221,514G/Cintergenic variant—
rs301205210:77,240,627T/Cintergenic variant—
rs301206010:77,244,336T/Aintergenic variant—
rs291502510:77,280,923C/A——
rs291502310:77,282,899A/T——
rs1082431610:77,295,843C/Tintergenic variant—
rs204309010:77,298,609A/C——
rs1076267010:77,310,016T/Cupstream gene variant—
rs790011210:77,314,617T/C——
rs970220910:77,321,645C/A——
rs3490738510:77,323,643C/G——
rs409321810:77,346,128A/C——
rs791111310:77,454,713A/T——
rs1100147710:77,467,020A/C——
rs7414719510:77,516,357T/C——
rs474579410:77,534,000A/Gintron variant—
rs75397178910:77,542,744A/G—uncertain significance
rs18822717110:77,542,757C/T—benign
rs74593012610:77,542,758G/A—uncertain significance
rs52904049410:77,542,765A/C—likely benign
rs118877401310:77,542,797C/T—likely benign
rs1082434710:77,645,229A/Tintron variant—
rs709904810:77,647,107G/T——
rs474634010:77,686,741C/T——
rs142547516110:77,795,788T/A—uncertain significance
rs249277638510:77,795,792G/C—uncertain significance
rs14965623710:77,795,793G/A—likely benign
rs77278099510:77,795,812T/C—likely benign
rs94161116910:77,795,825A/C—uncertain significance
rs14776880810:77,795,827C/T—conflicting classifications of pathogenicity
rs249277661410:77,795,840T/G—uncertain significance
rs158929767310:77,795,842G/A—uncertain significance
rs125673497210:77,795,850A/G—likely benign
rs11267606410:77,795,856A/G—benign
rs6042018210:77,795,862A/G—benign
rs75872286610:77,795,863C/G—uncertain significance
rs76674788710:77,795,865G/A—likely benign
rs52884700910:77,795,870C/T—uncertain significance
rs75506705110:77,795,871C/T—likely benign
rs78171843310:77,795,883C/A—uncertain significance
rs75314743710:77,795,886G/A—likely benign
rs120002502810:77,795,887A/G—uncertain significance
rs88604315510:77,795,890C/Tstop gainedpathogenic
rs156463558510:77,795,896T/C—uncertain significance
rs77814556610:77,795,897C/T—uncertain significance
rs77859930010:77,795,905C/T—likely benign
rs184824094110:77,795,908C/T—likely benign
rs118536654210:77,795,911G/A—likely benign
rs98770252210:77,806,911A/G—likely benign
rs135701627810:77,806,919C/G—uncertain significance
rs75654994610:77,806,922A/G—uncertain significance
rs77830527910:77,806,933G/C—uncertain significance
rs20171958910:77,806,986G/A—uncertain significance
rs75969672210:77,806,990G/T—likely benign
rs249279629310:77,806,997A/T—uncertain significance
rs19985723310:77,806,999C/T—likely benign
rs213204124110:77,807,005C/A—likely benign
rs87885435110:77,807,014C/Tsynonymous variantlikely benign
rs189807110:77,807,027T/C—benign
rs75963274710:77,807,047C/T—likely benign
rs37651784910:77,807,049A/G—uncertain significance
rs76966189210:77,807,062G/C—likely pathogenic
rs74916023410:77,807,081A/C—likely benign
rs189807010:77,807,092A/C—benign
rs423728410:77,814,847A/Gintron variant—
rs75122473010:77,818,404C/T—likely benign
rs129755050210:77,818,406C/G—likely benign
rs75447583610:77,818,412C/A—likely benign
rs90385539210:77,818,416T/A—likely benign
rs36770467410:77,818,463G/A—likely benign
rs76868489110:77,818,469C/T—likely benign
rs249206036410:77,818,488G/A—uncertain significance
rs76192903910:77,818,492G/A—uncertain significance
rs36835537210:77,818,502G/A—benign
rs18851410610:77,818,505G/T—benign
rs76732957510:77,818,521A/G—uncertain significance
rs14810066510:77,818,522T/C—uncertain significance
rs102731537410:77,818,529G/A—likely benign
rs78054524910:77,818,532G/A—likely benign
rs118548004810:77,818,537C/T—uncertain significance
rs74542336110:77,818,549G/T—likely benign
rs117170232110:77,818,553A/G—likely benign
rs116098484210:77,818,560G/A—likely benign
rs792428810:77,818,594C/T—benign
rs474636110:77,852,984C/G——
rs239533910:77,853,308C/Tintron variant—
rs1074045510:77,911,032A/G——
rs1076270110:77,926,204C/Tintron variant—
rs1224578810:77,932,402T/G——
rs1100166710:77,935,345A/T——
rs1045866010:77,936,576A/T——
rs1045866110:77,936,669C/A——
rs1045866210:77,936,670T/Gintron variant—
rs1693299510:77,949,820A/Gintron variant—
rs1693315410:78,037,322C/A——
rs55211698710:78,061,790C/T——
rs55666336910:78,078,360C/T——
rs249264181610:78,084,139A/C—likely benign

Showing 100 of 135 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.