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Variant : CV135428 (NM_018129.4(PNPO):c.486C>G (p.Pro162=)) Homo sapiens

Symbol: CV135428
Name: NM_018129.4(PNPO):c.486C>G (p.Pro162=)
Condition: Pyridoxal phosphate-responsive seizures [RCV000231405]|Seizures [RCV000715744]|not provided [RCV000712785]|not specified [RCV000118003]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 01/10/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: PNPO  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_008744.1:g.9407C>G
NC_000017.11:g.47945929C>G
NC_000017.10:g.46023295C>G
NP_060599.1:p.Pro162=
NM_018129.4:c.486C>G
NM_018129.3:c.486C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381747,945,929 - 47,945,929CLINVAR
GRCh371746,023,295 - 46,023,295CLINVAR
Cytogenetic Map1717q21.32CLINVAR
Trait Synonyms: AllHighlyPenetrant; EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED; Pyridoxal 5'-phosphate-dependent epilepsy; Pyridoxine-5'-phosphate oxidase deficiency; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE
Age Of Onset: infancy|neonatal



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660394
Created: 2014-06-10
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



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