RGD:28886789 Rat Genome Database

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Variant: RGD:28886789 -  Homo sapiens

RGD ID: 28886789
RS ID: rs558161718
ClinVar ID: CV864591
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 53,679,628
GRCh38 1 53,213,956
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330589.2:c.*361T>C
NG_008035.1:g.22528T>C
NC_000001.11:g.53213956T>C
NC_000001.10:g.53679628T>C
More... 		04/27/2017 3 prime utr variant uncertain significance Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPT2
Accession:NM_000098
Location:3UTRS;EXON

Gene Symbol:CPT2
Accession:NM_001330589
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001098572 CLINVAR
dbSNP (RS) rs558161718 CLINVAR
MedGen C0342790 CLINVAR
NCBI Gene CPT2 CLINVAR
OMIM 600650 CLINVAR
SNOMED CT 238002005 CLINVAR