RGD:12848111 Rat Genome Database

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Variant: RGD:12848111 -  Homo sapiens

RGD ID: 12848111
RS ID: rs764142914
ClinVar ID: CV371949
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACAT1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 108,002,646
GRCh38 11 108,131,919
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.108131919G>T
NC_000011.9:g.108002646G>T
NP_000010.1:p.Val29Leu
LRG_1400t1:c.85G>T
More... 		10/28/2019 missense variant uncertain significance 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-methylacetoaceticaciduria; Beta ketothiolase deficiency; Mitochondrial acetoacetyl-CoA Thiolase deficiency; none provided
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_001386679
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

Gene Symbol:ACAT1
Accession:NM_001386678
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYLERSYVSKPTLKDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLT
DVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVP
KLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKE
DIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQ
KL*

Gene Symbol:ACAT1
Accession:NM_000019
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYLERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG
IPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP
YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV
TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV
EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTH
ALKQGEYGLASICNGGGGASAMLIQKL*

Gene Symbol:ACAT1
Accession:NM_001386677
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYLERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG
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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000444703 CLINVAR
  RCV001833539 CLINVAR
dbSNP (RS) rs764142914 CLINVAR
MedGen C1536500 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACAT1 CLINVAR
OMIM 203750 CLINVAR
  607809 CLINVAR
SNOMED CT 124258007 CLINVAR