RGD:13791764 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13791764 -  Homo sapiens

RGD ID: 13791764
RS ID: rs964724051
ClinVar ID: CV549103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,007,083
GRCh38 19 12,896,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009292.1:g.10110C>T
NC_000019.10:g.12896269C>T
NC_000019.9:g.13007083C>T
NM_000159.2:c.700C>T
More...
09/12/2018 missense variant conflicting interpretations of pathogenicity|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_013976
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIWGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYEVVQMCSLKRRWNSL*

Gene Symbol:GCDH
Accession:NM_000159
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIWGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK*

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:25190159   PMID:25741868   PMID:28492532   PMID:30570710   PMID:33728242  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000667870 CLINVAR
dbSNP (RS) rs964724051 CLINVAR
MedGen C0268595 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR