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Mutations on the Protein: P01112 From Positions: 9 To 19

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Swiss-Prot Disease: VAR_026106
p.GLY12ALA
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


Swiss-Prot Disease: VAR_068817
p.GLY13ARG
N/A
N/A
Schimmelpenning-Feuerstein-Mims syndrome (SFM)


Swiss-Prot Disease: VAR_068816
p.GLY12ASP
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


Swiss-Prot Disease: VAR_026108
p.GLY13ASP
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


Swiss-Prot Disease: VAR_045975
p.GLY12CYS
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


Swiss-Prot Disease: VAR_026107
p.GLY13CYS
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


Swiss-Prot Disease: VAR_045976
p.GLY12GLU
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


Swiss-Prot Disease: VAR_006837
p.GLY12SER
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


Swiss-Prot Disease: VAR_006836
p.GLY12VAL
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


OMIM Disease: 190020.0004
p.GLY12ALA
N/A
N/A
COSTELLO SYNDROME


OMIM Disease: 190020.0017
p.GLY13ARG
N/A
N/A
NEVUS SEBACEOUS, SOMATIC||SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, INCLUDED;;||EPIDERMAL NEVUS, SOMATIC


OMIM Disease: 190020.0013
p.GLY12ASP
N/A
N/A
COSTELLO SYNDROME, SEVERE||NEVUS SEBACEOUS, SOMATIC, INCLUDED


OMIM Disease: 190020.0005
p.GLY13ASP
N/A
N/A
COSTELLO SYNDROME


OMIM Disease: 190020.0014
p.GLY12CYS
N/A
N/A
COSTELLO SYNDROME||NEVUS SEBACEOUS, SOMATIC, INCLUDED;;||EPIDERMAL NEVUS, SOMATIC, INCLUDED


OMIM Disease: 190020.0007
p.GLY13CYS
N/A
N/A
COSTELLO SYNDROME


OMIM Disease: 190020.0003
p.GLY12SER
N/A
N/A
COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;;||EPIDERMAL NEVUS WITH UROTHELIAL CAN


OMIM Disease: 190020.0001
p.GLY12VAL
N/A
N/A
BLADDER CANCER, SOMATIC||COSTELLO SYNDROME, INCLUDED;;||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;;






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