RGD:8560799 Rat Genome Database

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Variant: RGD:8560799 -  Homo sapiens

RGD ID: 8560799
RS ID: rs74315295
ClinVar ID: CV23997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 53,676,494
GRCh38 1 53,210,822
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.19394T>A
NC_000001.11:g.53210822T>A
NC_000001.10:g.53676494T>A
NP_000089.1:p.Phe383Tyr
More... 		10/31/2018 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity all ages|variable <1 / 1 000 000 Abnormality of the nervous system; Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Carnitine palmitoyltransferase deficiency type 2; 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; Congenital nervous system disorder; 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; Encephalopathy, acute, infection-induced, susceptibility to, 4; Seizures

Variant Details
Variant Transcripts
Gene Symbol:CPT2
Accession:NM_000098
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRYFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCV
EKALEDMFDALEGKSIKS*

Gene Symbol:CPT2
Accession:NM_001330589
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRYFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQIN
HNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS*
Variant Samples
Additional References at PubMed
PMID:8682496   PMID:9600456   PMID:12673791   PMID:17709715   PMID:18363739   PMID:20301431   PMID:21227726   PMID:22854105   PMID:23700290   PMID:25741868   PMID:25919294   PMID:28492532  
PMID:28516040  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009517 CLINVAR
  RCV000009518 CLINVAR
  RCV000202462 CLINVAR
  RCV000411002 CLINVAR
  RCV000762943 CLINVAR
  RCV001004159 CLINVAR
  RCV001270097 CLINVAR
  RCV003473065 CLINVAR
dbSNP (RS) rs74315295 CLINVAR
MedGen C0036572 CLINVAR
  C0342790 CLINVAR
  C1833508 CLINVAR
  C1833511 CLINVAR
  C1833518 CLINVAR
  C3280160 CLINVAR
NCBI Gene CPT2 CLINVAR
OMIM 255110 CLINVAR
  600649 CLINVAR
  600650 CLINVAR
  608836 CLINVAR
  614212 CLINVAR
OMIM Allele 600650.0007 CLINVAR
SNOMED CT 238002005 CLINVAR