RGD:9688807 Rat Genome Database

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Variant: RGD:9688807 -  Homo sapiens

RGD ID: 9688807
RS ID: rs377724489
ClinVar ID: CV178075
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A5  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 131,714,068
GRCh38 5 132,378,376
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.132378376A>C
NC_000005.9:g.131714068A>C
NG_008982.2:g.13673A>C
NM_001308122.2:c.466-2A>C
More... 		05/05/2014 splice acceptor variant pathogenic 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:XM_017009778
Location:5UTRS;INTRON

Gene Symbol:SLC22A5
Accession:XM_011543590
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417596
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417597
Location:INTRON

Gene Symbol:SLC22A5
Accession:NM_003060
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417598
Location:INTRON

Gene Symbol:SLC22A5
Accession:NM_001308122
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417595
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9916797   PMID:16199547   PMID:28492532   PMID:31737040   PMID:31813139  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153961 CLINVAR
  RCV001850109 CLINVAR
dbSNP (RS) rs377724489 CLINVAR
MedGen C0342788 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC22A5 CLINVAR
OMIM 212140 CLINVAR
  603377 CLINVAR
SNOMED CT 21764004 CLINVAR