RGD:13540459 Rat Genome Database

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Variant: RGD:13540459 -  Homo sapiens

RGD ID: 13540459
RS ID: rs771343450
ClinVar ID: CV498590
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 76,211,485
GRCh38 1 75,745,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286044.2:c.33-6T>C
NG_007045.2:g.26443T>C
NC_000001.11:g.75745800T>C
NC_000001.10:g.76211485T>C
More... 		09/11/2020 intron variant likely benign AllHighlyPenetrant; 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 RCV000614727 CLINVAR
  RCV000931984 CLINVAR
dbSNP (RS) rs771343450 CLINVAR
MedGen C0220710 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR