RGD:15198265 Rat Genome Database

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Variant: RGD:15198265 -  Homo sapiens

RGD ID: 15198265
RS ID: rs200757991
ClinVar ID: CV756720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,007,732
GRCh38 19 12,896,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013976.5:c.861C>T
NM_000159.4:c.861C>T
NG_009292.1:g.10759C>T
NC_000019.10:g.12896918C>T
More... 		12/04/2018 non-coding transcript variant likely benign 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_000159
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 287
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: F to F (synonymous)
Amino Acid Position: 287
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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000912209 CLINVAR
  RCV001311169 CLINVAR
dbSNP (RS) rs200757991 CLINVAR
MedGen C0268595 CLINVAR
  C3661900 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR