RGD:11345368 Rat Genome Database

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Variant: RGD:11345368 -  Homo sapiens

RGD ID: 11345368
RS ID: rs878853155
ClinVar ID: CV237513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  LOC117125594  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 13,002,205
GRCh38 19 12,891,391
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
NM_000159.4:c.87G>A
LRG_825:g.813C>T
NG_009292.1:g.5232G>A
NC_000019.10:g.12891391G>A
More... 		03/10/2016 non-coding transcript variant|synonymous variant benign infancy|neonatal >1 / 1000 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: Q to Q (synonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK*

Gene Symbol:GCDH
Accession:NM_013976
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
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 Information

Database Acc Id Source(s)
ClinVar RCV000224706 CLINVAR
dbSNP (RS) rs878853155 CLINVAR
MedGen C0268595 CLINVAR
NCBI Gene GCDH CLINVAR
  LOC117125594 CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR