HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Disease: Sandhoff Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs938611392
rs938611392
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		0.010 GeneticVariation BEFREE The c.448A>C mutation was probably a severe mutation as it was present in association with the known c.793T>G in an infantile form of Sandhoff disease and as it significantly modified the N-terminal domain structure of the protein. 23046579 2013