Home News About DMDM Database Statistics Research Publications Contact  

Mutations on the Protein: Q9P2D1 From Positions: 749 To 899

6
5
0
1






Swiss-Prot Disease: VAR_068117
p.GLU871ASP
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Polymorphism: VAR_068386
p.LYS812ASN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_054624
p.SER834PHE
N/A
N/A
Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)


Swiss-Prot Polymorphism: VAR_068118
p.THR894ALA
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068387
p.TRP840CYS
N/A
N/A
CHARGE syndrome (CHARGES)


OMIM Disease: 608892.0012
p.SER834PHE
N/A
N/A
CHARGE SYNDROME||HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA, INCLUDED






   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258