RGD:38480217 Rat Genome Database

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Variant: RGD:38480217 -  Homo sapiens

RGD ID: 38480217
RS ID: rs1055176086
ClinVar ID: CV941013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 68,566,685
GRCh38 11 68,799,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031847.3:c.693+1G>A
NM_001876.4:c.693+1G>A
NG_011801.1:g.47715G>A
NC_000011.10:g.68799217C>T
More... 		04/25/2023 splice donor variant likely pathogenic|conflicting interpretations of pathogenicity 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:XM_047426376
Location:INTRON

Gene Symbol:CPT1A
Accession:XM_047426377
Location:INTRON

Gene Symbol:CPT1A
Accession:NM_001876
Location:INTRON

Gene Symbol:CPT1A
Accession:NM_001031847
Location:INTRON

Gene Symbol:CPT1A
Accession:XM_017017220
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16169268   PMID:16199547   PMID:25741868   PMID:28492532   PMID:33845545  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001217441 CLINVAR
dbSNP (RS) rs1055176086 CLINVAR
MedGen C1829703 CLINVAR
NCBI Gene CPT1A CLINVAR
OMIM 255120 CLINVAR
  600528 CLINVAR