RGD:8692467 Rat Genome Database

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Variant: RGD:8692467 -  Homo sapiens

RGD ID: 8692467
RS ID: rs144362146
ClinVar ID: CV142436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 46,024,085
GRCh38 17 47,946,719
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.10197C>G
NC_000017.11:g.47946719C>G
NC_000017.10:g.46024085C>G
NP_060599.1:p.Ser241=
More... 		12/31/2019 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance infancy 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: S to S (synonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVKQFAAWFEEAVQCPDIGEANA
MCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFYWEPLNRQVRVEGPVKKLPEEEAECYFHS
RPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYVLYPQVMEFWQGQTNRLHDRIVFRRGLPTGD
SPLGPMTHRGEEDWLYERLAP*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000186649 CLINVAR
  RCV000724341 CLINVAR
  RCV001083205 CLINVAR
  RCV003965063 CLINVAR
dbSNP (RS) rs144362146 CLINVAR
MedGen C1864723 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR