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Variant : CV580351 (NM_018129.4(PNPO):c.697C>T (p.Arg233Trp)) Homo sapiens

Symbol: CV580351
Name: NM_018129.4(PNPO):c.697C>T (p.Arg233Trp)
Condition: Pyridoxal phosphate-responsive seizures [RCV000810123]|Seizures [RCV000720240]
Clinical Significance: uncertain significance
Last Evaluated: 12/21/2018
Review Status: criteria provided, single submitter
Related Genes: PNPO  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008744.1:g.10171C>T
NP_060599.1:p.Arg233Trp
NC_000017.11:g.47946693C>T
NC_000017.10:g.46024059C>T
NM_018129.4:c.697C>T
NM_018129.3:c.697C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381747,946,693 - 47,946,693CLINVAR
GRCh371746,024,059 - 46,024,059CLINVAR
Cytogenetic Map1717q21.32CLINVAR
Trait Synonyms: EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED; Pyridoxal 5'-phosphate-dependent epilepsy; Pyridoxine-5'-phosphate oxidase deficiency; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13830461
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2020-09-08
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.