RGD:28877212 Rat Genome Database

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Variant: RGD:28877212 -  Homo sapiens

RGD ID: 28877212
RS ID: rs1925561449
ClinVar ID: CV860766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 106,884,220
GRCh38 X 107,640,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002764.4:c.395C>T
LRG_264:g.17567C>T
NG_008407.1:g.17567C>T
NC_000023.11:g.107640990C>T
More...
09/10/2020 intron variant likely pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRPS1
Accession:NM_001204402
Location:5UTRS;INTRON

Gene Symbol:PRPS1
Accession:NM_002764
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIA
SASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHAFQIQGFFDIPVDNLYAEPAVLKWIRENIS
EWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001090394 CLINVAR
  RCV001324115 CLINVAR
dbSNP (RS) rs1925561449 CLINVAR
MedGen C3661900 CLINVAR
  CN118851 CLINVAR
NCBI Gene PRPS1 CLINVAR
OMIM 311850 CLINVAR