RGD:13783600 Rat Genome Database

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Variant: RGD:13783600 -  Homo sapiens

RGD ID: 13783600
RS ID: rs372429120
ClinVar ID: CV549089
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,004,356
GRCh38 19 12,893,542
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000159.4:c.394C>G
NR_102316.1:n.557C>G
NR_102317.1:n.810C>G
NP_039663.1:p.Arg132Gly
More... 		10/24/2017 missense variant uncertain significance GA I; Glutaric acidemia type I; Glutaricacidemia Type 1; Glutaricaciduria, type I; Glutaryl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GCDH
Accession:NM_000159
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELEGVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK*

Gene Symbol:GCDH
Accession:NM_013976
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELEGVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYEVVQMCSLKRRWNSL*

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

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

Variant Samples
Additional References at PubMed
PMID:12473778  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000670175 CLINVAR
dbSNP (RS) rs372429120 CLINVAR
MedGen C0268595 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR