RGD:12912820 Rat Genome Database

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Variant: RGD:12912820 -  Homo sapiens

RGD ID: 12912820
RS ID: rs1131691849
ClinVar ID: CV422413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPRT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 133,607,461
GRCh38 X 134,473,431
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012329.1:g.18287A>G
NC_000023.11:g.134473431A>G
NC_000023.10:g.133607461A>G
NP_000185.1:p.Arg34Gly
More... 		05/22/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HPRT1
Accession:NM_000194
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLEGVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLD
YIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKV
ASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000493053 CLINVAR
dbSNP (RS) rs1131691849 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HPRT1 CLINVAR
OMIM 308000 CLINVAR