RGD:26887905 Rat Genome Database

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Variant: RGD:26887905 -  Homo sapiens

RGD ID: 26887905
RS ID: rs1194929977
ClinVar ID: CV851850
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 131,722,665
GRCh38 5 132,386,973
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.9:g.131722665G>A
NM_003060.3:c.825-52G>A
NC_000005.10:g.132386973G>A
NM_001308122.2:c.897-52G>A
More... 		05/09/2023 intron variant pathogenic Carnitine deficiency; 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; Decreased plasma carnitine; Primary carnitine deficiency; Systemic primary carnitine deficiency disease
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC22A5
Accession:XM_017009778
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417595
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_011543590
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417598
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417596
Location:INTRON

Gene Symbol:SLC22A5
Accession:NM_003060
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417597
Location:INTRON

Gene Symbol:SLC22A5
Accession:NM_001308122
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23963628   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001045059 CLINVAR
  RCV002226510 CLINVAR
dbSNP (RS) rs1194929977 CLINVAR
MedGen C0342788 CLINVAR
  C1142132 CLINVAR
NCBI Gene SLC22A5 CLINVAR
OMIM 212140 CLINVAR
  603377 CLINVAR
SNOMED CT 21764004 CLINVAR
  421784001 CLINVAR