RGD:151834136 Rat Genome Database

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Variant: RGD:151834136 -  Homo sapiens

RGD ID: 151834136
RS ID: rs2077590197
ClinVar ID: CV1412962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 108,012,429
GRCh38 11 108,141,702
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1400t1:c.826+2T>C
NM_001386678.1:c.511+2T>C
NM_001386679.1:c.529+2T>C
NM_001386681.1:c.556+2T>C
More... 		07/14/2021 splice donor variant pathogenic 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_000019
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386682
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386681
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386685
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386686
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386677
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386679
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386678
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386687
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386688
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386690
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386691
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386689
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:1346617   PMID:7749408   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002014601 CLINVAR
dbSNP (RS) rs2077590197 CLINVAR
MedGen C1536500 CLINVAR
NCBI Gene ACAT1 CLINVAR
OMIM 203750 CLINVAR
  607809 CLINVAR
SNOMED CT 124258007 CLINVAR