RGD:10396533 Rat Genome Database

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Variant: RGD:10396533 -  Homo sapiens

RGD ID: 10396533
RS ID: rs773450573
ClinVar ID: CV203490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 46,024,048
GRCh38 17 47,946,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008744.1:g.10160G>A
NC_000017.11:g.47946682G>A
NC_000017.10:g.46024048G>A
NP_060599.1:p.Arg229Gln
More... 		10/14/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance infancy|neonatal EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED; none provided; Pyridoxal 5'-phosphate-dependent epilepsy; Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency; Pyridoxine-5'-phosphate oxidase deficiency; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNPO
Accession:NM_018129
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVKQFAAWFEEAVQCPDIGEANA
MCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFYWEPLNRQVRVEGPVKKLPEEEAECYFHS
RPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYVLYPQVMEFWQGQTNRLHDQIVFRRGLPTGD
SPLGPMTHRGEEDWLYERLAP*
Variant Samples
Additional References at PubMed
PMID:19759001   PMID:23708187   PMID:24266778   PMID:25741868   PMID:26467025   PMID:28133863   PMID:28492532   PMID:28985901   PMID:36007526  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000188500 CLINVAR
  RCV000208780 CLINVAR
  RCV003947579 CLINVAR
dbSNP (RS) rs773450573 CLINVAR
MedGen C1864723 CLINVAR
  C3661900 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR
OMIM Allele 603287.0006 CLINVAR