RGD:11664834 Rat Genome Database

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Variant: RGD:11664834 -  Homo sapiens

RGD ID: 11664834
RS ID: rs886053102
ClinVar ID: CV346382
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: PNPO  
Reference Nucleotide: -
Variant Nucleotide: AG
Position
Assembly Chr Position
GRCh37 17 46,024,429
GRCh38 17 47,947,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_018129.4:c.*282_*283insAG
NG_008744.1:g.10542_10543insAG
NC_000017.11:g.47947064_47947065insAG
NC_000017.10:g.46024430_46024431insAG
More... 		06/14/2016 3 prime utr variant uncertain significance infancy 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000386381 CLINVAR
dbSNP (RS) rs886053102 CLINVAR
MedGen C1864723 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR