RGD:12739448 Rat Genome Database

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Variant: RGD:12739448 -  Homo sapiens

RGD ID: 12739448
RS ID: rs1057517473
ClinVar ID: CV357126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 53,676,993
GRCh38 1 53,211,321
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
NG_008035.1:g.19893T>G
NC_000001.11:g.53211321T>G
NC_000001.10:g.53676993T>G
NM_001330589.2:c.1576+71T>G
More... 		02/16/2016 intron variant likely pathogenic all ages <1 / 1 000 000 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, late-onset; Carnitine palmitoyltransferase II deficiency, lethal neonatal; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL; CPT II DEFICIENCY, HEPATIC; CPT II deficiency, infantile; CPT II DEFICIENCY, LETHAL NEONATAL; CPT II DEFICIENCY, MYOPATHIC; CPT II deficiency, myopathic, stress-induced; CPT2 DEFICIENCY, INFANTILE; CPT2 DEFICIENCY, LATE-ONSET; CPT2 DEFICIENCY, LETHAL NEONATAL

Variant Details
Variant Transcripts
Gene Symbol:CPT2
Accession:NM_000098
Location:INTRON

Gene Symbol:CPT2
Accession:NM_001330589
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000409646 CLINVAR
  RCV000410325 CLINVAR
  RCV000411662 CLINVAR
dbSNP (RS) rs1057517473 CLINVAR
MedGen C1833508 CLINVAR
  C1833511 CLINVAR
  C1833518 CLINVAR
NCBI Gene CPT2 CLINVAR
OMIM 255110 CLINVAR
  600649 CLINVAR
  600650 CLINVAR
  608836 CLINVAR