RGD:14727202 Rat Genome Database

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Variant: RGD:14727202 -  Homo sapiens

RGD ID: 14727202
RS ID: rs774366700
ClinVar ID: CV632091
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: QDPR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 17,493,910
GRCh38 4 17,492,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001306140.2:c.397C>G
NM_000320.3:c.490C>G
NG_008763.1:g.24948C>G
NC_000004.12:g.17492287G>C
More... 		11/02/2018 missense variant uncertain significance 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_001306140
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQS
IWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQSVAGKNSGMPPGAAAIAVLPVTLDTPMNR
KSMPEADFSSWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF*

Gene Symbol:QDPR
Accession:NM_000320
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKV
DAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQL
CQSVAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELT
PAYF*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000815990 CLINVAR
dbSNP (RS) rs774366700 CLINVAR
MedGen C0268465 CLINVAR
NCBI Gene QDPR CLINVAR
OMIM 261630 CLINVAR
  612676 CLINVAR
SNOMED CT 58256000 CLINVAR