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Variant : CV224877 (NM_018129.4(PNPO):c.674G>A (p.Arg225His)) Homo sapiens

Symbol: CV224877
Name: NM_018129.4(PNPO):c.674G>A (p.Arg225His)
Condition: Distal hereditary motor neuronopathy type 5 [RCV000825022]|Pyridoxal phosphate-responsive seizures [RCV000208779]|Seizures [RCV000414812]|Seizures [RCV001199351]|not provided [RCV001090956]
Clinical Significance: pathogenic
Last Evaluated: 12/04/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: PNPO  
Variant Type: single nucleotide variant (SO:0001583)
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NG_008744.1:g.10148G>A
Human AssemblyChrPosition (strand)Source
GRCh381747,946,670 - 47,946,670CLINVAR
GRCh371746,024,036 - 46,024,036CLINVAR
Cytogenetic Map1717q21.32CLINVAR
Trait Synonyms: Delayed growth; DHMN VA; Distal Spinal Muscular Atrophy V; EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED; Gastrostomy tube feeding in infancy; Growth deficiency; Growth delay; Growth retardation; HMN VA; In utero growth retardation; Intrauterine growth failure; Intrauterine growth retardation; Intrauterine growth retardation, IUGR; Intrauterine retardation; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; PEG-fed in infancy; Poor growth; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal-onset growth retardation; Pyridoxal 5'-phosphate-dependent epilepsy; Pyridoxine-5'-phosphate oxidase deficiency; Retarded growth; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE; Small for gestational age infant; SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA; VERY POOR GROWTH
Age Of Onset: infancy|neonatal

Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11049598
Created: 2016-04-12
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.