RGD:156413889 Rat Genome Database

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Variant: RGD:156413889 -  Homo sapiens

RGD ID: 156413889
ClinVar ID: CV1905687
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERAC1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 158,540,217
GRCh38 6 158,119,185
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_032861.4:c.1167-15T>C
NG_032889.1:g.54096T>C
NC_000006.12:g.158119185A>G
NC_000006.11:g.158540217A>G
 10/23/2022 intron variant likely benign 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1905687Human3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  IAGP 8554872ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeClinVarPMID:28492532
Gene Symbol:SERAC1
Accession:NM_032861
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_006715586
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_011536198
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_024446573
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_047419421
Location:INTRON

Gene Symbol:SERAC1
Accession:NR_073096
Location:INTRON;NON-CODING

Gene Symbol:SERAC1
Accession:XR_007059349
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003073487 CLINVAR
MedGen C4040739 CLINVAR
NCBI Gene SERAC1 CLINVAR
OMIM 614725 CLINVAR
  614739 CLINVAR