RGD:13789413 Rat Genome Database

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Variant: RGD:13789413 -  Homo sapiens

RGD ID: 13789413
RS ID: rs768596219
ClinVar ID: CV541351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 76,190,504
GRCh38 1 75,724,819
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.76190504T>C
NG_007045.2:g.5462T>C
NC_000001.11:g.75724819T>C
NM_000016.4:c.30+2T>C
More... 		08/12/2021 splice donor variant pathogenic|likely pathogenic 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 References at PubMed
PMID:16121256   PMID:16199547   PMID:20434380   PMID:25741868   PMID:28492532   PMID:32793418  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665983 CLINVAR
dbSNP (RS) rs768596219 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR