RGD:156172523 Rat Genome Database

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Variant: RGD:156172523 -  Homo sapiens

RGD ID: 156172523
ClinVar ID: CV1881336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AUH  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 94,087,686
GRCh38 9 91,325,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_449t1:c.419G>T
NM_001306190.2:c.419-27328G>T
NM_001698.3:c.419G>T
NM_001351431.2:c.92G>T
More... 		08/09/2022 intron 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:XM_011518803
Location:3UTRS;INTRON

Gene Symbol:AUH
Accession:XM_047423530
Location:5UTRS;INTRON

Gene Symbol:AUH
Accession:NM_001351431
Location:INTRON

Gene Symbol:AUH
Accession:XM_005252072
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423525
Location:INTRON

Gene Symbol:AUH
Accession:XM_011518800
Location:INTRON

Gene Symbol:AUH
Accession:XM_017014849
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423528
Location:INTRON

Gene Symbol:AUH
Accession:XM_006717150
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423527
Location:INTRON

Gene Symbol:AUH
Accession:NM_001306190
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423529
Location:INTRON

Gene Symbol:AUH
Accession:NM_001351433
Location:INTRON

Gene Symbol:AUH
Accession:NM_001698
Location:INTRON

Gene Symbol:AUH
Accession:NM_001351432
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423526
Location:INTRON

Gene Symbol:AUH
Accession:XM_005252067
Location:INTRON

Gene Symbol:AUH
Accession:XM_005252066
Location:INTRON

Gene Symbol:AUH
Accession:XM_005252069
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003083278 CLINVAR
MedGen C0342727 CLINVAR
NCBI Gene AUH CLINVAR
OMIM 250950 CLINVAR
  600529 CLINVAR