Home News About DMDM Database Statistics Research Publications Contact  

Mutations on the Protein: Q5HYA8 From Positions: 597 To 647

4
2
1
1



Swiss-Prot Disease: VAR_062319
p.CYS615ARG
N/A
N/A
Nephronophthisis 11 (NPHP11)


dbSNP Polymorphism: rs3134031
p.ILE604VAL
N/A
N/A
N/A


Swiss-Prot Disease: VAR_063797
p.PHE637LEU
N/A
N/A
COACH syndrome (COACHS)


OMIM Disease: 609884.0019
p.CYS615ARG
N/A
N/A
NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6, INCLUDED






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