RGD:14395753 Rat Genome Database

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Variant: RGD:14395753 -  Homo sapiens

RGD ID: 14395753
RS ID: rs1569359021
ClinVar ID: CV611934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPRT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 133,627,589
GRCh38 X 134,493,559
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000194.3:c.454C>T
NG_012329.2:g.38415C>T
NC_000023.11:g.134493559C>T
NC_000023.10:g.133627589C>T
More... 		10/19/2018 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:HPRT1
Accession:NM_000194
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLD
YIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVR*YNPKMVKV
ASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000760358 CLINVAR
dbSNP (RS) rs1569359021 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HPRT1 CLINVAR
OMIM 308000 CLINVAR