RGD:11648655 Rat Genome Database

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Variant: RGD:11648655 -  Homo sapiens

RGD ID: 11648655
RS ID: rs886047597
ClinVar ID: CV324041
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 108,018,172
GRCh38 11 108,147,445
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
LRG_1400t1:c.*55T>C
NM_000019.4:c.*55T>C
NC_000011.10:g.108147445T>C
NC_000011.9:g.108018172T>C
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-methylacetoaceticaciduria; Beta ketothiolase deficiency; Mitochondrial acetoacetyl-CoA Thiolase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACAT1
Accession:NM_001386682
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386691
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386681
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386686
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386685
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386689
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386677
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386688
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386690
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386678
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386679
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386687
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_000019
Location:3UTRS;EXON

Gene Symbol:ACAT1
Accession:NR_170163
Location:EXON;NON-CODING

Gene Symbol:ACAT1
Accession:NR_170162
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000283145 CLINVAR
dbSNP (RS) rs886047597 CLINVAR
MedGen C1536500 CLINVAR
NCBI Gene ACAT1 CLINVAR
OMIM 203750 CLINVAR
  607809 CLINVAR
SNOMED CT 124258007 CLINVAR