RGD:11087620 Rat Genome Database

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Variant: RGD:11087620 -  Homo sapiens

RGD ID: 11087620
RS ID: rs571856182
ClinVar ID: CV227880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 76,200,627
GRCh38 1 75,734,942
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007045.2:g.15585T>C
NC_000001.11:g.75734942T>C
NC_000001.10:g.76200627T>C
NM_000016.4:c.468+71T>C
More... 		02/20/2015 intron variant benign infancy|neonatal 1-5 / 10 000 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_001286044
Location:5UTRS;INTRON

Gene Symbol:ACADM
Accession:NM_001286043
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001127328
Location:INTRON

Gene Symbol:ACADM
Accession:NM_000016
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001286042
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000211444 CLINVAR
dbSNP (RS) rs571856182 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR