RGD:151840317 Rat Genome Database

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Variant: RGD:151840317 -  Homo sapiens

RGD ID: 151840317
RS ID: rs1398261487
ClinVar ID: CV1391415
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AUH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 93,983,097
GRCh38 9 91,220,815
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.506T>C
NM_001351432.2:c.506T>C
NM_001351433.2:c.506T>C
NM_001306190.2:c.746T>C
More... 		08/24/2021 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: F to S (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKD
RLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252067
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLARESLPQGPVAMRVAKLAINQGMETIPTKDRLEGLL
AFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252066
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEA
CYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252069
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLARESLPQVKQIRRC*

Gene Symbol:AUH
Accession:XM_006717150
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 259
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAI
DGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLE
QNQEGDAAYRKALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE
*

Gene Symbol:AUH
Accession:NM_001306190
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_017014849
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLARESLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRY
KGE*

Gene Symbol:AUH
Accession:NM_001351433
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLARESLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:NM_001351431
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:NM_001351432
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423525
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLARESLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423528
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423527
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALMCSQMDFKFSLPPATTRDVLEEHSCLCWGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGL
ELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAY
RKALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423530
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAI
GMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLARESLPQGPVAMRVAKLAINQGMEVDLVTGLAIE
EACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423526
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLARESLPQVKQIRRC*

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_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 RCV001977608 CLINVAR
dbSNP (RS) rs1398261487 CLINVAR
MedGen C0342727 CLINVAR
NCBI Gene AUH CLINVAR
OMIM 250950 CLINVAR
  600529 CLINVAR