RGD:8567688 Rat Genome Database

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Variant: RGD:8567688 -  Homo sapiens

RGD ID: 8567688
RS ID: rs57262206
ClinVar ID: CV36674
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MIR3936HG  SLC22A5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 131,705,516
GRCh38 5 132,369,824
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_000005.10:g.132369824G>A
NC_000005.9:g.131705516G>A
NG_008982.2:g.5121G>A
NM_001152.5:c.-149G>A
More... 		12/08/2020 5 prime utr variant|intron variant|utr-5 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided neonatal/infancy 1-9 / 100 000 Carnitine Deficiency, Systemic; Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; Carnitine plasma-membrane transporter deficiency; Carnitine transporter deficiency; CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Carnitine uptake defect; none provided; Primary carnitine deficiency; Systemic primary carnitine deficiency disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC22A5
Accession:NM_003060
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_017009778
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:NM_001308122
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_047417598
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_047417595
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_047417597
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_011543590
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417596
Location:INTRON

Gene Symbol:MIR3936HG
Accession:NR_110997
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:31187905   PMID:31864849   PMID:31980526  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022286 CLINVAR
  RCV001268199 CLINVAR
  RCV003407353 CLINVAR
dbSNP (RS) rs57262206 CLINVAR
MedGen C0342788 CLINVAR
  C3661900 CLINVAR
NCBI Gene 553103 CLINVAR
  LOC129994569 CLINVAR
  SLC22A5 CLINVAR
OMIM 212140 CLINVAR
  603377 CLINVAR
OMIM Allele 603377.0023 CLINVAR
SNOMED CT 21764004 CLINVAR