RGD:13811937 Rat Genome Database

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Variant: RGD:13811937 -  Homo sapiens

RGD ID: 13811937
RS ID: rs767530116
ClinVar ID: CV558557
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 53,679,176
GRCh38 1 53,213,504
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.22076C>T
NC_000001.11:g.53213504C>T
NC_000001.10:g.53679176C>T
NP_000089.1:p.Pro629Leu
More... 		06/27/2018 missense variant uncertain significance 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; 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; none provided

Variant Details
Variant Transcripts
Gene Symbol:CPT2
Accession:NM_001330589
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 606
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQIN
HNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYLGRNAREFLQCVEKALEDMFDALEGKSIKS*

Gene Symbol:CPT2
Accession:NM_000098
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 629
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYLGRNAREFLQCV
EKALEDMFDALEGKSIKS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000689096 CLINVAR
  RCV002261175 CLINVAR
  RCV002493166 CLINVAR
  RCV003163128 CLINVAR
  RCV003453429 CLINVAR
  RCV003453430 CLINVAR
  RCV003453431 CLINVAR
  RCV003453432 CLINVAR
dbSNP (RS) rs767530116 CLINVAR
MedGen C0342790 CLINVAR
  C0950123 CLINVAR
  C1833508 CLINVAR
  C1833511 CLINVAR
  C1833518 CLINVAR
  C3280160 CLINVAR
  C3661900 CLINVAR
NCBI Gene CPT2 CLINVAR
OMIM 255110 CLINVAR
  600649 CLINVAR
  600650 CLINVAR
  608836 CLINVAR
  614212 CLINVAR
SNOMED CT 238002005 CLINVAR