RGD:11585449 Rat Genome Database

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Variant: RGD:11585449 -  Homo sapiens

RGD ID: 11585449
RS ID: rs61612438
ClinVar ID: CV283289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 76,229,221
GRCh38 1 75,763,536
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.44179G>A
NC_000001.11:g.75763536G>A
NC_000001.10:g.76229221G>A
NM_000016.4:c.*773G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign 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_001286043
Location:3UTRS;EXON

Gene Symbol:ACADM
Accession:NM_000016
Location:3UTRS;EXON

Gene Symbol:ACADM
Accession:NM_001127328
Location:3UTRS;EXON

Gene Symbol:ACADM
Accession:NM_001286044
Location:3UTRS;EXON

Gene Symbol:ACADM
Accession:NM_001286042
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000281243 CLINVAR
dbSNP (RS) rs61612438 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR