Gene Mutations
 
Records Return:  (10) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
HEXA60686927280015q23-q24436delG TAY-SACHS DISEASE1
HEXA60686927280015q23-q24ARG247TRP0035BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF2
HEXA60686927280015q23-q24c.1073+1 G>A (IVS9+1 G>A)0033TAY-SACHS DISEASE1
HEXA60686927280015q23-q24c.1274_1277dupTATC0001TAY-SACHS DISEASE13
HEXA60686927280015q23-q24GLU482LYS0004TAY-SACHS DISEASE1
HEXA60686927280015q23-q24GLY269SER0008GM2-GANGLIOSIDOSIS, ADULT ONSET5
HEXA60686927280015q23-q24IVS11+1G>C TAY-SACHS DISEASE1
HEXA60686927280015q23-q24IVS12DS, G>C, +10002TAY-SACHS DISEASE3
HEXA60686927280015q23-q24TRP392TER0050TAY-SACHS DISEASE1
HEXA60686927280015q23-q24TRP420CYS0012TAY-SACHS DISEASE1