RGD:38468480 Rat Genome Database

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Variant: RGD:38468480 -  Homo sapiens

RGD ID: 38468480
RS ID: rs781682674
ClinVar ID: CV960433
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 53,668,111
GRCh38 1 53,202,439
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008035.1:g.11011C>G
NC_000001.11:g.53202439C>G
NC_000001.10:g.53668111C>G
NM_000098.2:c.340+10C>G
More... 		02/24/2022 intron variant likely benign|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:INTRON

Gene Symbol:CPT2
Accession:NM_001330589
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001248041 CLINVAR
dbSNP (RS) rs781682674 CLINVAR
MedGen C0342790 CLINVAR
NCBI Gene CPT2 CLINVAR
OMIM 600650 CLINVAR
SNOMED CT 238002005 CLINVAR