RGD:11653853 Rat Genome Database

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Variant: RGD:11653853 -  Homo sapiens

RGD ID: 11653853
RS ID: rs746348980
ClinVar ID: CV300931
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SLC22A5  
Reference Nucleotide: -
Variant Nucleotide: TA
Position
Assembly Chr Position
GRCh37 5 131,730,920
GRCh38 5 132,395,228
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
NM_001308122.2:c.*956_*957insTA
NC_000005.10:g.132395228_132395229insTA
NC_000005.9:g.131730920_131730921insTA
NM_003060.3:c.*956_*957insTA
More... 		06/14/2016 3 prime utr variant uncertain significance 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; 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_011543590
Location:3UTRS;EXON

Gene Symbol:SLC22A5
Accession:NM_003060
Location:3UTRS;EXON

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

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

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

Gene Symbol:SLC22A5
Accession:XM_047417597
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417598
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417595
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000313669 CLINVAR
dbSNP (RS) rs746348980 CLINVAR
MedGen C0342788 CLINVAR
NCBI Gene SLC22A5 CLINVAR
OMIM 212140 CLINVAR
  603377 CLINVAR
SNOMED CT 21764004 CLINVAR