RGD:12740069 Rat Genome Database

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Variant: RGD:12740069 -  Homo sapiens

RGD ID: 12740069
RS ID: rs1057516983
ClinVar ID: CV357135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 76,199,314
GRCh38 1 75,733,629
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.14272G>T
NC_000001.11:g.75733629G>T
NC_000001.10:g.76199314G>T
NM_000016.4:c.387+1G>T
More...
06/22/2016 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_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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000411111 CLINVAR
dbSNP (RS) rs1057516983 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR