RGD:11586111 Rat Genome Database

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Variant: RGD:11586111 -  Homo sapiens

RGD ID: 11586111
RS ID: rs142341148
ClinVar ID: CV287539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPIA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 89,049,517
GRCh38 2 88,750,000
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_016710.1:g.63342A>G
NC_000002.12:g.88750000A>G
NC_000002.11:g.89049517A>G
NP_653164.2:p.Leu286=
More... 		01/13/2018 synonymous variant benign|likely benign childhood <1 / 1 000 000 none provided; Ribose-5-P isomerase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPIA
Accession:NM_144563
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRPGPFSTLYGRVLAPLPGRAGGAASGGGGNSWDLPGSHVRLPGRAQSGTRGGAGNTSTSCGDSNSICPAPSTMSKAEE
AKKLAGRAAVENHVRNNQVLGIGSGSTIVHAVQRIAERVKQENLNLVCIPTSFQARQLILQYGLTLSDLDRHPEIDLAID
GADEVDADLNLIKGGGGCLTQEKIVAGYASRFIVIADFRKDSKNLGDQWHKGIPIEVIPMAYVPVSRAVSQKFGGVVELR
MAVNKAGPVVTDNGNFILDWKFDRVHKWSEVNTAIKMIPGVVDTGLFINMAERVYFGMQDGSVNMREKPFC*

Gene Symbol:RPIA
Accession:XM_047443733
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000285755 CLINVAR
  RCV001510958 CLINVAR
  RCV003922467 CLINVAR
dbSNP (RS) rs142341148 CLINVAR
MedGen C1291609 CLINVAR
  C3661900 CLINVAR
NCBI Gene RPIA CLINVAR
OMIM 180430 CLINVAR
  608611 CLINVAR
SNOMED CT 124667004 CLINVAR