RGD:13618273 Rat Genome Database

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Variant: RGD:13618273 -  Homo sapiens

RGD ID: 13618273
RS ID: rs1405935475
ClinVar ID: CV532756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  LOC126862860  SYCE2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,010,287
GRCh38 19 12,899,473
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.13314C>G
NC_000019.10:g.12899473C>G
NC_000019.9:g.13010287C>G
NP_000150.1:p.His417Asp
More... 		09/01/2021 intron variant pathogenic|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: H to D (nonsynonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLM
PRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRM
QFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHV
IRHAMNLEAVNTYEGTDDIHALILGRAITGIQAFTASK*

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

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

Gene Symbol:SYCE2
Accession:NM_001105578
Location:INTRON

Gene Symbol:GCDH
Accession:NM_013976
Location:INTRON

Gene Symbol:SYCE2
Accession:XM_011527882
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:29665094  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000634886 CLINVAR
dbSNP (RS) rs1405935475 CLINVAR
MedGen C0268595 CLINVAR
NCBI Gene GCDH CLINVAR
  LOC126862860 CLINVAR
  SYCE2 CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
  611487 CLINVAR
SNOMED CT 76175005 CLINVAR