CDAN1

codanin 1

Summary

This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]

Known Variants536 total

rsidPosition (GRCh37)AllelesClassClinVar
rs206148680615:43,015,793A/Guncertain significance
rs57365992215:43,015,862T/Cuncertain significance
rs88605115415:43,015,901C/Auncertain significance
rs101118830415:43,015,936G/Auncertain significance
rs206148873315:43,015,958G/Tuncertain significance
rs52832309315:43,015,967C/Tuncertain significance
rs124568816115:43,016,002C/Guncertain significance
rs96539212615:43,016,009G/Cuncertain significance
rs75289119215:43,016,032T/Cuncertain significance
rs206148981115:43,016,048C/Auncertain significance
rs88605115515:43,016,089T/Cuncertain significance
rs131499919715:43,016,150G/Auncertain significance
rs88605115615:43,016,340T/Cuncertain significance
rs56838794415:43,016,466C/Guncertain significance
rs374298815:43,016,475A/Gbenign
rs206149478315:43,016,515C/Guncertain significance
rs374298715:43,016,547T/Cbenign
rs206149563215:43,016,595A/Guncertain significance
rs56711783915:43,016,631C/Tuncertain significance
rs75336099015:43,016,690T/Cuncertain significance
rs7719172215:43,016,707A/Glikely benign
rs76476383815:43,016,715G/Auncertain significance
rs97997275015:43,016,722C/Tlikely benign
rs13893455415:43,016,725C/Tuncertain significance
rs76670830915:43,016,733C/Tuncertain significance
rs138479728315:43,016,734A/Gconflicting classifications of pathogenicity
rs116572553915:43,016,737G/Alikely benign
rs159584707815:43,016,748G/Tuncertain significance
rs133678322915:43,016,757G/Cuncertain significance
rs36875990215:43,016,769C/Tuncertain significance
rs57390212315:43,016,770G/Alikely benign
rs37090644815:43,016,776A/Cuncertain significance
rs125007166915:43,016,781G/Cuncertain significance
rs74573765015:43,016,782A/Glikely benign
rs77178068315:43,016,783T/Auncertain significance
rs206149851815:43,016,784T/Cuncertain significance
rs250606161215:43,016,788C/Glikely benign
rs146019440615:43,016,789A/Gconflicting classifications of pathogenicity
rs54302008715:43,016,824A/Guncertain significance
rs37512868415:43,016,825T/Cconflicting classifications of pathogenicity
rs1290782615:43,017,081G/Abenign
rs37190101315:43,017,344C/Tuncertain significance
rs250606476215:43,017,366G/Alikely benign
rs19226808015:43,017,376C/Tconflicting classifications of pathogenicity
rs123673733115:43,017,415A/Tuncertain significance
rs14473209615:43,017,419G/Tuncertain significance
rs136787495915:43,017,422C/Tuncertain significance
rs36771041515:43,017,424C/Tuncertain significance
rs1695709115:43,017,426T/Gbenign
rs37597664815:43,017,440G/Alikely benign
rs144985049415:43,017,463C/Tuncertain significance
rs14162674515:43,017,670T/Cconflicting classifications of pathogenicity
rs5604612215:43,017,676G/Abenign
rs77576882415:43,017,702G/Alikely benign
rs159584829015:43,017,721T/Guncertain significance
rs8033869915:43,017,748G/Amissense variantpathogenic
rs14183264815:43,017,753C/Tconflicting classifications of pathogenicity
rs75249786215:43,017,754G/Auncertain significance
rs147716517615:43,017,769T/Guncertain significance
rs77842159915:43,017,791T/Guncertain significance
rs53108116215:43,017,794G/Auncertain significance
rs74658283215:43,017,805C/Guncertain significance
rs206151536715:43,017,808G/Cuncertain significance
rs206151559715:43,017,816T/Clikely benign
rs55119652915:43,017,821C/Tuncertain significance
rs120225374515:43,017,827T/Cuncertain significance
rs37702691615:43,017,837C/Tlikely benign
rs37552193415:43,017,838G/Auncertain significance
rs95444315315:43,017,847A/Cuncertain significance
rs76512944515:43,017,848G/Alikely benign
rs77936282115:43,017,864T/Glikely benign
rs77048604815:43,017,878G/Alikely benign
rs649306215:43,017,919G/Abenign
rs75469916515:43,018,277G/Alikely benign
rs55905382015:43,018,295C/Guncertain significance
rs77821883115:43,018,296G/Auncertain significance
rs37156706815:43,018,302G/Clikely benign
rs206152366615:43,018,320G/Tpathogenic
rs250607009115:43,018,339T/Guncertain significance
rs77688166615:43,018,346G/Auncertain significance
rs77293923615:43,018,363G/Tuncertain significance
rs19958427015:43,018,372G/Tlikely benign
rs250607025715:43,018,377G/Alikely benign
rs230508515:43,018,486G/Abenign
rs76716977215:43,018,491C/Tlikely benign
rs159584973515:43,018,500C/Glikely benign
rs100027949115:43,018,501A/Tlikely benign
rs20112549215:43,018,503C/Tconflicting classifications of pathogenicity
rs14604996015:43,018,512C/Tconflicting classifications of pathogenicity
rs75429913815:43,018,513G/Auncertain significance
rs6174635615:43,018,518C/Tlikely benign
rs14030434815:43,018,523C/Tlikely benign
rs14385727615:43,018,524G/Auncertain significance
rs75888812315:43,018,530C/Tuncertain significance
rs90618542915:43,018,533A/Cuncertain significance
rs6174635915:43,018,543G/Aconflicting classifications of pathogenicity
rs2866182615:43,018,559C/Tbenign
rs14970479715:43,018,560T/Cuncertain significance
rs250607135315:43,018,565G/Tlikely benign
rs74581699515:43,018,570C/Tuncertain significance

Showing 100 of 536 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.