RGD:13782395 Rat Genome Database

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Variant: RGD:13782395 -  Homo sapiens

RGD ID: 13782395
RS ID: rs1555749369
ClinVar ID: CV548711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 13,002,928
GRCh38 19 12,892,114
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000159.2:c.272-2A>C
NG_009292.1:g.5955A>C
NC_000019.10:g.12892114A>C
NC_000019.9:g.13002928A>C
More... 		07/05/2019 splice acceptor variant 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_013976
Location:INTRON

Gene Symbol:GCDH
Accession:NM_000159
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:10699052   PMID:11854167   PMID:16199547   PMID:16602100   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000668794 CLINVAR
dbSNP (RS) rs1555749369 CLINVAR
MedGen C0268595 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR