RGD:8598476 Rat Genome Database

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Variant: RGD:8598476 -  Homo sapiens

RGD ID: 8598476
RS ID: rs137852492
ClinVar ID: CV25088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPRT1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 133,632,463
GRCh38 X 134,498,433
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
NG_012329.1:g.43289G>T
NC_000023.11:g.134498433G>T
NC_000023.10:g.133632463G>T
NP_000185.1:p.Asp177Tyr
More... 		10/24/2013 missense|missense variant pathogenic neonatal/infancy 1-9 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPRT1
Accession:NM_000194
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLD
YIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKV
ASLLVKRTPRSVGYKPYFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA*
Variant Samples
Additional References at PubMed
PMID:2347587  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010749 CLINVAR
dbSNP (RS) rs137852492 CLINVAR
MedGen C0023374 CLINVAR
NCBI Gene HPRT1 CLINVAR
OMIM 300322 CLINVAR
  308000 CLINVAR
OMIM Allele 308000.0021 CLINVAR
SNOMED CT 10406007 CLINVAR