RGD:11664841 Rat Genome Database

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Variant: RGD:11664841 -  Homo sapiens

RGD ID: 11664841
RS ID: rs886053100
ClinVar ID: CV345045
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 46,019,024
GRCh38 17 47,941,658
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.5136C>T
NC_000017.11:g.47941658C>T
NC_000017.10:g.46019024C>T
NM_018129.4:c.-18C>T
More... 		06/14/2016 5 prime utr variant uncertain significance|not provided infancy 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000397144 CLINVAR
  RCV000767317 CLINVAR
dbSNP (RS) rs886053100 CLINVAR
MedGen C1864723 CLINVAR
  CN517202 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR