RGD:405040577 Rat Genome Database

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Variant: RGD:405040577 -  Homo sapiens

RGD ID: 405040577
ClinVar ID: CV3066147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 76,226,794
GRCh38 1 75,761,109
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.75761109T>C
NC_000001.10:g.76226794T>C
NM_001286043.2:c.1045-13T>C
NM_001286044.2:c.379-13T>C
More... 		04/03/2023 intron variant likely benign CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACADM
Accession:NM_001127328
Location:INTRON

Gene Symbol:ACADM
Accession:NM_000016
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001286043
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001286042
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001286044
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003609735 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR