RGD:26920256 Rat Genome Database

Variant: RGD:26920256 - Homo sapiens

RGD ID:

26920256

RS ID:

rs1423043030

ClinVar ID:

CV836281

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

AUH

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	94,118,198
GRCh38	9	91,355,916

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
NM_001351431.2:c.58A>T NM_001351432.2:c.58A>T NM_001351433.2:c.58A>T LRG_449t1:c.385A>T More...	05/03/2019	missense variant	uncertain significance	3 alpha methylglutaconic aciduria type I; 3 methylglutaconic aciduria type I; 3 methylglutaconyl CoA hydratase deficiency; 3MG CoA hydratase deficiency; MGA type I

Disease Annotations Click to see Annotation Detail View

3-methylglutaconic aciduria type 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	AUH
Accession:	XM_047423527
Location:	5UTRS;EXON

Gene Symbol:	AUH
Accession:	NM_001698
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKD RLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_005252066
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEA CYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_005252072
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSKSSMKIGIIIF QTPVNIDILASSHES*

Gene Symbol:	AUH
Accession:	NM_001306190
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAANLPVPTIAAIDGLALGGGLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	NM_001351431
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_047423526
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQVKQIRRC*

Gene Symbol:	AUH
Accession:	XM_005252069
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQVKQIRRC*

Gene Symbol:	AUH
Accession:	XM_011518803
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAAWRAGQGHHSP FIPVACSSASSRSLSRDQEE*

Gene Symbol:	AUH
Accession:	XM_011518800
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSK SSMKIGIIIFQTPVNIDILASSHES*

Gene Symbol:	AUH
Accession:	XM_006717150
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAANLPVPTIAAI DGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLE QNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE *

Gene Symbol:	AUH
Accession:	NM_001351433
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	NM_001351432
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_005252067
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLL AFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_017014849
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRY KGE*

Gene Symbol:	AUH
Accession:	XM_047423529
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAANLPVPTIAAIDGLALGGGLE LALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSKSSMKIGIIIFQTPVNIDILASSHES*

Gene Symbol:	AUH
Accession:	XM_047423525
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIFRSEVPGIFCAANLPVPTIAAIDGLALGGGLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_047423528
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIFRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XR_007061324
Location:	EXON;NON-CODING

Gene Symbol:	AUH
Accession:	XR_007061323
Location:	EXON;NON-CODING

Gene Symbol:	AUH
Accession:	XM_047423530
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001059798	CLINVAR
dbSNP (RS)	rs1423043030	CLINVAR
MedGen	C0342727	CLINVAR
NCBI Gene	AUH	CLINVAR
OMIM	250950	CLINVAR
	600529	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)

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

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Variant: RGD:26920256 - Homo sapiens

Imported Disease Annotations - ClinVar