RGD:28892713 Rat Genome Database

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Variant: RGD:28892713 -  Homo sapiens

RGD ID: 28892713
RS ID: rs557809028
ClinVar ID: CV892878
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A5  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 131,730,160
GRCh38 5 132,394,468
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.131730160A>T
NG_008982.2:g.29765A>T
NM_003060.3:c.*196A>T
NM_003060.4:c.*196A>T
More... 		04/27/2017 3 prime utr variant uncertain significance 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; 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:3UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_011543590
Location:3UTRS;EXON

Gene Symbol:SLC22A5
Accession:NM_001308122
Location:3UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_047417596
Location:3UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_017009778
Location:3UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_047417595
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417597
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417598
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001153272 CLINVAR
dbSNP (RS) rs557809028 CLINVAR
MedGen C0342788 CLINVAR
NCBI Gene SLC22A5 CLINVAR
OMIM 212140 CLINVAR
  603377 CLINVAR
SNOMED CT 21764004 CLINVAR