RGD:8639217 Rat Genome Database

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Variant: RGD:8639217 -  Homo sapiens

RGD ID: 8639217
RS ID: rs3741055
ClinVar ID: CV98205
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAT1  LOC129663034  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 107,992,325
GRCh38 11 108,121,598
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
NC_000011.10:g.108121598T>A
NC_000011.9:g.107992325T>A
LRG_1400t1:c.-9T>A
NM_000019.4:c.-9T>A
More... 		07/01/2021 5 prime utr variant|utr-5 benign infancy <1 / 1 000 000 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; AllHighlyPenetrant; Alpha-methylacetoaceticaciduria; Beta ketothiolase deficiency; Mitochondrial acetoacetyl-CoA Thiolase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACAT1
Accession:NM_001386677
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386679
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_000019
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386685
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386678
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386686
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386682
Location:5UTRS;INTRON

Gene Symbol:ACAT1
Accession:NM_001386681
Location:5UTRS;INTRON

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

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

Gene Symbol:ACAT1
Accession:NM_001386687
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386691
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386688
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386689
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386690
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000077928 CLINVAR
  RCV000336276 CLINVAR
  RCV001647045 CLINVAR
dbSNP (RS) rs3741055 CLINVAR
MedGen C1536500 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACAT1 CLINVAR
OMIM 203750 CLINVAR
  607809 CLINVAR
SNOMED CT 124258007 CLINVAR