RGD:13788167 Rat Genome Database

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Variant: RGD:13788167 -  Homo sapiens

RGD ID: 13788167
RS ID: rs140771069
ClinVar ID: CV541223
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 53,676,750
GRCh38 1 53,211,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000098.2:c.1404G>T
NP_001317518.1:p.Gln468His
NG_008035.1:g.19650G>T
NC_000001.11:g.53211078G>T
More... 		04/11/2023 missense variant uncertain significance Carnitine palmitoyl transferase 2 deficiency; 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

Variant Details
Variant Transcripts
Gene Symbol:CPT2
Accession:NM_001330589
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 468
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAHLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQIN
HNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS*

Gene Symbol:CPT2
Accession:NM_000098
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 468
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAHLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCV
EKALEDMFDALEGKSIKS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665230 CLINVAR
  RCV001868201 CLINVAR
  RCV003451633 CLINVAR
  RCV003451634 CLINVAR
  RCV003451635 CLINVAR
dbSNP (RS) rs140771069 CLINVAR
MedGen 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
SNOMED CT 238002005 CLINVAR