RGD:127299098 Rat Genome Database

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Variant: RGD:127299098 -  Homo sapiens

RGD ID: 127299098
RS ID: rs769462031
ClinVar ID: CV1121954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT1A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 68,571,575
GRCh38 11 68,804,107
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.68571575G>T
NM_001031847.3:c.454-6C>A
NM_001876.4:c.454-6C>A
NG_011801.1:g.42825C>A
More... 		06/23/2020 intron variant likely benign Carnitine palmitoyl transferase 1 deficiency; Carnitine palmitoyltransferase 1A deficiency; Carnitine Palmitoyltransferase IA Deficiency; Carnitine palmitoyltransferase type I deficiency; CPT deficiency, hepatic, type IA; CPT1A deficiency; Hepatic carnitine palmitoyltransferase 1 deficiency; Hepatic CPT1; L-CPT 1 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPT1A
Accession:NM_001876
Location:INTRON

Gene Symbol:CPT1A
Accession:XM_017017220
Location:INTRON

Gene Symbol:CPT1A
Accession:XM_047426376
Location:INTRON

Gene Symbol:CPT1A
Accession:XM_047426377
Location:INTRON

Gene Symbol:CPT1A
Accession:NM_001031847
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001460708 CLINVAR
dbSNP (RS) rs769462031 CLINVAR
MedGen C1829703 CLINVAR
NCBI Gene CPT1A CLINVAR
OMIM 255120 CLINVAR
  600528 CLINVAR