Home Query References Browse Contact

1 patient data entry in database for mutations Q879H and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
411Q879H1
E1143G
A467T2
T885S1
Presented with epilepsy following minor head trauma, 2 months after valproate treatment developed persistent vomiting and encephalopathy, deranged liver function tests, prolonged clotting, elevated ammonia, and a high plasma lactate, Hepatic dysfunction progressed,
-epilepsy
-encephalopathy
-vomiting
infantile
2n/an/aMcFarland et al, 2008;

[view data]

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: