RGD:10396523 Rat Genome Database

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Variant: RGD:10396523 -  Homo sapiens

RGD ID: 10396523
RS ID: rs549477447
ClinVar ID: CV203475
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 46,020,681
GRCh38 17 47,943,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008744.1:g.6793G>A
NC_000017.11:g.47943315G>A
NC_000017.10:g.46020681G>A
NP_060599.1:p.Glu50Lys
More... 		09/01/2020 2kb upstream variant|missense variant uncertain significance AllHighlyPenetrant; 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: E to K (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEKTHLTSLDPVKQFAAWFEEAVQCPDIGEANA
MCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFYWEPLNRQVRVEGPVKKLPEEEAECYFHS
RPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYVLYPQVMEFWQGQTNRLHDRIVFRRGLPTGD
SPLGPMTHRGEEDWLYERLAP*
Variant Samples
Additional References at PubMed
PMID:15772097   PMID:24645144   PMID:25741868   PMID:28349276   PMID:28492532   PMID:34769443  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000188488 CLINVAR
  RCV001042917 CLINVAR
  RCV002271452 CLINVAR
dbSNP (RS) rs549477447 CLINVAR
MedGen C1864723 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR