RGD:10397901 Rat Genome Database

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Variant: RGD:10397901 -  Homo sapiens

RGD ID: 10397901
RS ID: rs796052869
ClinVar ID: CV203487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 46,023,687
GRCh38 17 47,946,321
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018129.3:c.547-2A>T
NG_008744.1:g.9799A>T
NC_000017.11:g.47946321A>T
NC_000017.10:g.46023687A>T
More... 		07/17/2021 splice acceptor variant pathogenic|likely pathogenic EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED; 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:INTRON

Variant Samples
Additional References at PubMed
PMID:15772097   PMID:16199547   PMID:24645144   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001966417 CLINVAR
dbSNP (RS) rs796052869 CLINVAR
MedGen C1864723 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR