RGD:14732337 Rat Genome Database

Variant: RGD:14732337 - Homo sapiens

RGD ID:

14732337

RS ID:

rs532190594

ClinVar ID:

CV639365

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ACAT1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	108,010,834
GRCh38	11	108,140,107

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1400t1:c.622C>G NM_000019.4:c.622C>G LRG_1400:g.28403C>G NG_009888.2:g.28403C>G More...	08/23/2018	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

beta-ketothiolase deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ACAT1
Accession:	NM_001386687
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386677
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	208

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG IPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGKCFLNFRMSGAR IVGHLTHALKQGEYGLASICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386679
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYKEVKDKLLQGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLI VKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRV DFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKD VGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGA SAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386685
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386678
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLT DVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVP KLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKE DIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQ KL*

Gene Symbol:	ACAT1
Accession:	NM_001386691
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386690
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386688
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386686
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386689
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_000019
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	208

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAG IPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVP YVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAV EPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTH ALKQGEYGLASICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386682
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

Gene Symbol:	ACAT1
Accession:	NM_001386681
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPY GGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIAGNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTVTVKGQPDVVV KEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPV YAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLA SICNGGGGASAMLIQKL*

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:17236799	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000801801	CLINVAR
dbSNP (RS)	rs532190594	CLINVAR
MedGen	C1536500	CLINVAR
NCBI Gene	ACAT1	CLINVAR
OMIM	203750	CLINVAR
	607809	CLINVAR
SNOMED CT	124258007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:14732337 - Homo sapiens

Imported Disease Annotations - ClinVar