RGD:9692968 Rat Genome Database

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Variant: RGD:9692968 -  Homo sapiens

RGD ID: 9692968
RS ID: rs147611168
ClinVar ID: CV177296
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 13,008,674
GRCh38 19 12,897,860
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009292.1:g.11701G>A
NC_000019.10:g.12897860G>A
NC_000019.9:g.13008674G>A
NR_102316.1:n.1403G>A
More... 		12/10/2018 missense variant pathogenic neonatal/infancy >1 / 1000 GA I; Glutaric acidemia type I; Glutaricacidemia Type 1; Glutaricaciduria, type I; Glutaryl-CoA dehydrogenase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GCDH
Accession:NM_013976
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYKVVQMCSLKRRWNSL*

Gene Symbol:GCDH
Accession:NM_000159
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYKGTHDIHALILGRAITGIQAFTASK*

Gene Symbol:GCDH
Accession:NR_102316
Location:EXON;NON-CODING

Gene Symbol:GCDH
Accession:NR_102317
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:8900227   PMID:16466958   PMID:18775954   PMID:19433437   PMID:25741868   PMID:28438223   PMID:28492532   PMID:31536184  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000173984 CLINVAR
  RCV000790682 CLINVAR
  RCV003398804 CLINVAR
dbSNP (RS) rs147611168 CLINVAR
MedGen C0268595 CLINVAR
  C3661900 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR