RGD:12739775 Rat Genome Database

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Variant: RGD:12739775 -  Homo sapiens

RGD ID: 12739775
RS ID: rs113887538
ClinVar ID: CV357129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 76,194,174
GRCh38 1 75,728,489
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
NM_001286042.2:c.10+3672G>T
NG_007045.2:g.9132G>T
NC_000001.11:g.75728489G>T
NC_000001.10:g.76194174G>T
More... 		11/03/2021 intron variant likely pathogenic infancy 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:16121256   PMID:16199547   PMID:20434380   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000410407 CLINVAR
dbSNP (RS) rs113887538 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR