RGD:12840554 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:12840554 -  Homo sapiens

RGD ID: 12840554
RS ID: rs202145705
ClinVar ID: CV365299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 53,676,216
GRCh38 1 53,210,544
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.19116C>T
NC_000001.11:g.53210544C>T
NC_000001.10:g.53676216C>T
NP_000089.1:p.Tyr290=
More...
02/12/2019 synonymous variant likely benign AllHighlyPenetrant; 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_000098
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCV
EKALEDMFDALEGKSIKS*

Gene Symbol:CPT2
Accession:NM_001330589
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQIN
HNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000430937 CLINVAR
  RCV000635378 CLINVAR
  RCV003449091 CLINVAR
  RCV003449092 CLINVAR
  RCV003449093 CLINVAR
  RCV003449094 CLINVAR
dbSNP (RS) rs202145705 CLINVAR
MedGen C0342790 CLINVAR
  C1833508 CLINVAR
  C1833511 CLINVAR
  C1833518 CLINVAR
  C3280160 CLINVAR
  CN169374 CLINVAR
NCBI Gene CPT2 CLINVAR
OMIM 255110 CLINVAR
  600649 CLINVAR
  600650 CLINVAR
  608836 CLINVAR
  614212 CLINVAR
SNOMED CT 238002005 CLINVAR