RGD:10397898 Rat Genome Database

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Variant: RGD:10397898 -  Homo sapiens

RGD ID: 10397898
RS ID: rs796052866
ClinVar ID: CV203477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 46,022,024
GRCh38 17 47,944,658
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.8136C>T
NC_000017.11:g.47944658C>T
NC_000017.10:g.46022024C>T
NP_060599.1:p.Phe102=
More... 		04/12/2017 synonymous variant benign|likely benign AllHighlyPenetrant; 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:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVKQFAAWFEEAVQCPDIGEANA
MCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFYWEPLNRQVRVEGPVKKLPEEEAECYFHS
RPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYVLYPQVMEFWQGQTNRLHDRIVFRRGLPTGD
SPLGPMTHRGEEDWLYERLAP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000188483 CLINVAR
  RCV000544247 CLINVAR
  RCV002444763 CLINVAR
dbSNP (RS) rs796052866 CLINVAR
MedGen C0950123 CLINVAR
  C1864723 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR