JAG1

jagged canonical Notch ligand 1

Summary

The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]

Known Variants1,343 total

rsidPosition (GRCh37)AllelesClassClinVar
rs94316980920:10,618,478T/G—uncertain significance
rs88605650520:10,618,509T/C—uncertain significance
rs99834207420:10,618,534C/T—uncertain significance
rs870820:10,618,574T/Cregulatory region variantbenign
rs76081150420:10,618,595G/A—conflicting classifications of pathogenicity
rs7847116520:10,618,653T/C—benign
rs206724478520:10,618,706T/C—uncertain significance
rs88605650620:10,618,922C/T—uncertain significance
rs782820:10,619,014A/C—benign
rs14817596320:10,619,062C/G—benign
rs88605651020:10,619,176A/G—uncertain significance
rs11127744320:10,619,232C/T—uncertain significance
rs119174770820:10,619,265G/A—uncertain significance
rs4553473820:10,619,390C/T—benign
rs86662669620:10,619,505G/T—uncertain significance
rs14614446420:10,619,527G/A—benign
rs206725078820:10,619,559A/G—uncertain significance
rs75582671520:10,619,625A/G—uncertain significance
rs88605651120:10,619,745G/A—uncertain significance
rs56265581720:10,619,748A/G—uncertain significance
rs88605651220:10,619,768A/C—uncertain significance
rs57552574320:10,619,849G/A—uncertain significance
rs78088727420:10,619,893G/A—uncertain significance
rs55432752420:10,620,125G/A—likely benign
rs116065221020:10,620,128G/A—uncertain significance
rs37262032620:10,620,137C/T—uncertain significance
rs75255404020:10,620,138G/A—likely benign
rs87980092320:10,620,139C/T—uncertain significance
rs37688152320:10,620,140G/A—likely benign
rs87925425620:10,620,144T/C—likely benign
rs134214779520:10,620,150A/T—uncertain significance
rs15029502620:10,620,151C/T—conflicting classifications of pathogenicity
rs54283174420:10,620,152G/A—conflicting classifications of pathogenicity
rs78020072220:10,620,154T/G—conflicting classifications of pathogenicity
rs251450606320:10,620,155G/T—uncertain significance
rs251450607420:10,620,159T/G—uncertain significance
rs13800756120:10,620,165C/T—conflicting classifications of pathogenicity
rs76927625520:10,620,166G/A—uncertain significance
rs212259283420:10,620,180G/A—uncertain significance
rs143142026520:10,620,183C/T—uncertain significance
rs56259505620:10,620,186T/A—uncertain significance
rs77182071020:10,620,197G/A—likely benign
rs251450612120:10,620,199T/C—uncertain significance
rs251450612420:10,620,200G/A—likely benign
rs251450613020:10,620,203C/T—likely benign
rs53169871120:10,620,212T/G—likely benign
rs77029039620:10,620,213G/T—uncertain significance
rs77620986020:10,620,214T/C—likely benign
rs251450614820:10,620,217A/C—uncertain significance
rs39751587620:10,620,220T/C—conflicting classifications of pathogenicity
rs76527565320:10,620,222G/A—uncertain significance
rs125113462820:10,620,224G/C—uncertain significance
rs77524198320:10,620,226G/A—conflicting classifications of pathogenicity
rs76277467820:10,620,230T/G—likely benign
rs20157266620:10,620,233C/T—conflicting classifications of pathogenicity
rs133480746320:10,620,234G/A—conflicting classifications of pathogenicity
rs37384602120:10,620,236C/T—likely benign
rs99736323620:10,620,237G/A—conflicting classifications of pathogenicity
rs37681624320:10,620,239G/A—likely benign
rs76636845720:10,620,240C/G—uncertain significance
rs105157182020:10,620,241C/T—conflicting classifications of pathogenicity
rs75401086820:10,620,242G/C—uncertain significance
rs75542072920:10,620,243T/C—conflicting classifications of pathogenicity
rs147638714320:10,620,245G/A—likely benign
rs88635771520:10,620,246G/C—conflicting classifications of pathogenicity
rs77960582720:10,620,247G/A—uncertain significance
rs14201768420:10,620,248G/A—likely benign
rs117713913920:10,620,249G/A—uncertain significance
rs251450623020:10,620,258T/A—uncertain significance
rs147979070520:10,620,259C/T—uncertain significance
rs75878813520:10,620,261C/T—conflicting classifications of pathogenicity
rs96307670420:10,620,263G/A—likely benign
rs102369851520:10,620,265C/T—uncertain significance
rs251450624720:10,620,268C/T—uncertain significance
rs251450625120:10,620,269C/A—likely benign
rs77829654420:10,620,272C/T—likely benign
rs53323739920:10,620,273G/A—conflicting classifications of pathogenicity
rs105142120:10,620,275G/A—benign
rs74543148220:10,620,278C/T—likely benign
rs91804609120:10,620,279G/A—conflicting classifications of pathogenicity
rs76968585820:10,620,280C/T—conflicting classifications of pathogenicity
rs141336000420:10,620,281C/T—conflicting classifications of pathogenicity
rs77536355520:10,620,282G/A—conflicting classifications of pathogenicity
rs155582748020:10,620,286G/T—uncertain significance
rs76289790420:10,620,288T/C—uncertain significance
rs251450629220:10,620,293A/C—uncertain significance
rs13845256720:10,620,296C/G—likely benign
rs126856160420:10,620,297C/T—conflicting classifications of pathogenicity
rs36816234320:10,620,298G/C—conflicting classifications of pathogenicity
rs37543121920:10,620,300G/C—conflicting classifications of pathogenicity
rs76667583020:10,620,311G/A—likely benign
rs251450631920:10,620,316T/C—uncertain significance
rs75383257020:10,620,319C/T—uncertain significance
rs120989502320:10,620,322T/C—likely benign
rs75504744720:10,620,325C/G—uncertain significance
rs76543105220:10,620,326G/A—likely benign
rs36799292820:10,620,327T/A—uncertain significance
rs14396691820:10,620,336A/G—conflicting classifications of pathogenicity
rs212259315120:10,620,343A/G—uncertain significance
rs139288743020:10,620,347G/C—uncertain significance

Showing 100 of 1,343 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.