RGD:14746612 Rat Genome Database

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Variant: RGD:14746612 -  Homo sapiens

RGD ID: 14746612
RS ID: rs1305448140
ClinVar ID: CV654019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAT1  LOC129663034  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 107,992,334
GRCh38 11 108,121,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1400p1:p.Met1Val
NC_000011.10:g.108121607A>G
NM_000019.3:c.1A>G
NM_000019.4:c.1A>G
More... 		07/13/2022 initiatior codon variant|initiator_codon_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_001386686
Location:5UTRS;EXON

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

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

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

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

Gene Symbol:ACAT1
Accession:NM_001386678
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLT
DVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVP
KLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKE
DIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQ
KL*

Gene Symbol:ACAT1
Accession:NM_000019
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG
IPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP
YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV
TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV
EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTH
ALKQGEYGLASICNGGGGASAMLIQKL*

Gene Symbol:ACAT1
Accession:NM_001386677
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG
IPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP
YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV
TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV
EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGKCFLNFRMSGAR
IVGHLTHALKQGEYGLASICNGGGGASAMLIQKL*

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

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

Gene Symbol:ACAT1
Accession:NM_001386691
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386687
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386689
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386688
Location:INTRON

Gene Symbol:ACAT1
Accession:NM_001386690
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12754704   PMID:25741868   PMID:28220263   PMID:28492532   PMID:31268215  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000844765 CLINVAR
dbSNP (RS) rs1305448140 CLINVAR
MedGen C1536500 CLINVAR
NCBI Gene ACAT1 CLINVAR
OMIM 203750 CLINVAR
  607809 CLINVAR
SNOMED CT 124258007 CLINVAR