RGD:8555657 Rat Genome Database

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Variant: RGD:8555657 -  Homo sapiens

RGD ID: 8555657
RS ID: rs2108987974
ClinVar ID: CV15532
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: QDPR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 17,494,392
GRCh38 4 17,492,769
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001306140.2:c.344-429A>G
NM_000320.3:c.437-429A>G
NG_008763.1:g.24466A>G
NC_000004.12:g.17492769T>C
More... 		03/05/2012 intron variant pathogenic neonatal/infancy 1-9 / 1 000 000 Hyperphenylalaninemia due to dihydropteridine reductase deficiency; Hyperphenylalaninemia, BH-4-deficient, C; HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY; Phenylketonuria II; Phenylketonuria type 2; Quinoid dihydropteridine reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:QDPR
Accession:NM_000320
Location:INTRON

Gene Symbol:QDPR
Accession:NM_001306140
Location:INTRON

Gene Symbol:QDPR
Accession:NR_156494
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9341885  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000522 CLINVAR
dbSNP (RS) rs2108987974 CLINVAR
MedGen C0268465 CLINVAR
NCBI Gene QDPR CLINVAR
OMIM 261630 CLINVAR
  612676 CLINVAR
OMIM Allele 612676.0005 CLINVAR
SNOMED CT 58256000 CLINVAR