RGD:14708562 Rat Genome Database

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Variant: RGD:14708562 -  Homo sapiens

RGD ID: 14708562
RS ID: rs1570862121
ClinVar ID: CV658059
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 76,198,621
GRCh38 1 75,732,936
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007045.2:g.13579A>G
NC_000001.10:g.76198621A>G
NM_000016.4:c.286+14A>G
NC_000001.11:g.75732936A>G
More... 		05/21/2018 intron variant likely benign CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency; none provided
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_001286042
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001286043
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000827188 CLINVAR
  RCV003609171 CLINVAR
dbSNP (RS) rs1570862121 CLINVAR
MedGen C0220710 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR