Gene Mutations
 
Records Return:  (7) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ASAH6134682280008p22412G>T FARBER LIPOGRANULOMATOSIS1
ASAH6134682280008p22ASN320ASP0004FARBER LIPOGRANULOMATOSIS1
ASAH6134682280008p22ASP331ASN FARBER LIPOGRANULOMATOSIS1
ASAH6134682280008p22GLU138VAL0002FARBER LIPOGRANULOMATOSIS1
ASAH6134682280008p22IVS13+1G>T FARBER LIPOGRANULOMATOSIS1
ASAH6134682280008p22THR222LYS0001FARBER LIPOGRANULOMATOSIS1
ASAH6134682280008p22TYR36CYS0003FARBER LIPOGRANULOMATOSIS1