RGD:11644405 Rat Genome Database

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Variant: RGD:11644405 -  Homo sapiens

RGD ID: 11644405
RS ID: rs886048029
ClinVar ID: CV313364
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAD8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 134,135,550
GRCh38 11 134,265,656
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_448t1:c.*696A>G
LRG_448:g.17117A>G
NG_015842.1:g.17117A>G
NC_000011.10:g.134265656A>G
More... 		01/12/2018 3 prime utr variant uncertain significance infancy ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF; Acyl-CoaA dehydrogenase family, member 8, deficiency of; IBD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACAD8
Accession:XM_047426770
Location:3UTRS;EXON

Gene Symbol:ACAD8
Accession:NM_014384
Location:3UTRS;EXON

Gene Symbol:ACAD8
Accession:XM_011542750
Location:INTRON

Gene Symbol:ACAD8
Accession:XM_047426768
Location:INTRON

Gene Symbol:ACAD8
Accession:XM_047426769
Location:INTRON

Gene Symbol:ACAD8
Accession:XM_005271505
Location:INTRON

Gene Symbol:ACAD8
Accession:XR_007062474
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260003 CLINVAR
dbSNP (RS) rs886048029 CLINVAR
MedGen C1969809 CLINVAR
NCBI Gene ACAD8 CLINVAR
OMIM 604773 CLINVAR
  611283 CLINVAR
SNOMED CT 445274004 CLINVAR