RGD:13787868 Rat Genome Database

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Variant: RGD:13787868 -  Homo sapiens

RGD ID: 13787868
RS ID: rs1555749853
ClinVar ID: CV549080
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 13,004,299
GRCh38 19 12,893,485
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_102316.1:n.500T>C
NR_102317.1:n.753T>C
NP_039663.1:p.Tyr113His
NG_009292.1:g.7326T>C
More... 		01/31/2020 missense variant pathogenic|likely pathogenic 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: Y to H (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGHGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK*

Gene Symbol:GCDH
Accession:NM_013976
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGHGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
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:10699052   PMID:19433437   PMID:25741868   PMID:28062662   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000673679 CLINVAR
dbSNP (RS) rs1555749853 CLINVAR
MedGen C0268595 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR