RGD:151889296 Rat Genome Database

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Variant: RGD:151889296 -  Homo sapiens

RGD ID: 151889296
RS ID: rs1826877739
ClinVar ID: CV1419549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AUH  LOC127815180  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 93,979,593
GRCh38 9 91,217,311
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001351431.2:c.533G>C
NM_001351432.2:c.533G>C
NM_001351433.2:c.533G>C
NM_001306190.2:c.773G>C
More... 		11/16/2021 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


Variant Details
Variant Transcripts
Gene Symbol:AUH
Accession:NM_001698
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKD
RLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252067
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMTVAKLAINQGMETIPTKDRLEGLL
AFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252066
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEA
CYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_006717150
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 268
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAI
DGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLE
QNQEGDAAYRKALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE
*

Gene Symbol:AUH
Accession:NM_001306190
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_017014849
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMTVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRY
KGE*

Gene Symbol:AUH
Accession:NM_001351433
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMTVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:NM_001351431
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:NM_001351432
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423525
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMTVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423528
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423527
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALMCSQMDFKFSLPPATTRDVLEEHSCLCWGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGL
ELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAY
RKALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423530
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAI
GMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMTVAKLAINQGMEVDLVTGLAIE
EACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252069
Location:INTRON

Gene Symbol:AUH
Accession:XM_005252072
Location:INTRON

Gene Symbol:AUH
Accession:XM_011518800
Location:INTRON

Gene Symbol:AUH
Accession:XM_011518803
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423526
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423529
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001963400 CLINVAR
dbSNP (RS) rs1826877739 CLINVAR
MedGen C0342727 CLINVAR
NCBI Gene AUH CLINVAR
OMIM 250950 CLINVAR
  600529 CLINVAR