RGD:12845590 Rat Genome Database

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Variant: RGD:12845590 -  Homo sapiens

RGD ID: 12845590
RS ID: rs781650833
ClinVar ID: CV376170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,004,283
GRCh38 19 12,893,469
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.7310C>T
NC_000019.10:g.12893469C>T
NC_000019.9:g.13004283C>T
NM_000159.2:c.335-14C>T
More... 		10/25/2022 intron variant likely benign AllHighlyPenetrant; 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:INTRON

Gene Symbol:GCDH
Accession:NM_013976
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000440089 CLINVAR
  RCV001197320 CLINVAR
dbSNP (RS) rs781650833 CLINVAR
MedGen C0268595 CLINVAR
  CN169374 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR