RGD:8598474 Rat Genome Database

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Variant: RGD:8598474 -  Homo sapiens

RGD ID: 8598474
RS ID: rs137852490
ClinVar ID: CV25086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPRT1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 133,634,060
GRCh38 X 134,500,030
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
NC_000023.11:g.134500030C>G
NC_000023.10:g.133634060C>G
NP_000185.1:p.His204Asp
P00492:p.His204Asp
More... 		04/01/2020 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 1-9 / 1 000 000 GOUT, HPRT-RELATED; HPRT DEFICIENCY, PARTIAL; HPRT1 DEFICIENCY, PARTIAL; HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL; Lesch-Nyhan syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPRT1
Accession:NM_000194
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLD
YIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKV
ASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNDVCVISETGKAKYKA*
Variant Samples
Additional References at PubMed
PMID:2347587   PMID:2928313   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010747 CLINVAR
  RCV001250108 CLINVAR
dbSNP (RS) rs137852490 CLINVAR
MedGen C0023374 CLINVAR
  C0268117 CLINVAR
NCBI Gene HPRT1 CLINVAR
OMIM 300322 CLINVAR
  300323 CLINVAR
  308000 CLINVAR
OMIM Allele 308000.0019 CLINVAR
SNOMED CT 10406007 CLINVAR
  238007004 CLINVAR