RGD:38473512 Rat Genome Database

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Variant: RGD:38473512 -  Homo sapiens

RGD ID: 38473512
RS ID: rs545826042
ClinVar ID: CV947180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 108,004,566
GRCh38 11 108,133,839
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1400p1:p.Ala47Val
NP_000010.1:p.Ala47Val
LRG_1400t1:c.140C>T
NG_009888.2:g.22135C>T
More... 		11/12/2019 missense variant uncertain significance 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_001386681
Location:5UTRS;EXON

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

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

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

Gene Symbol:ACAT1
Accession:NM_001386691
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386689
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386687
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386688
Location:5UTRS;EXON

Gene Symbol:ACAT1
Accession:NM_001386690
Location:5UTRS;EXON

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

Gene Symbol:ACAT1
Accession:NM_000019
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSVTRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG
IPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP
YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV
TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV
EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTH
ALKQGEYGLASICNGGGGASAMLIQKL*

Gene Symbol:ACAT1
Accession:NM_001386677
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSVTRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG
IPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP
YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV
TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV
EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGKCFLNFRMSGAR
IVGHLTHALKQGEYGLASICNGGGGASAMLIQKL*

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_001386678
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001231845 CLINVAR
dbSNP (RS) rs545826042 CLINVAR
MedGen C1536500 CLINVAR
NCBI Gene ACAT1 CLINVAR
OMIM 203750 CLINVAR
  607809 CLINVAR
SNOMED CT 124258007 CLINVAR