RGD:11631620 Rat Genome Database

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Variant: RGD:11631620 -  Homo sapiens

RGD ID: 11631620
RS ID: rs756372984
ClinVar ID: CV349417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCDH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 13,008,507
GRCh38 19 12,897,693
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.11534C>T
NC_000019.10:g.12897693C>T
NC_000019.9:g.13008507C>T
NM_013976.5:c.1083-10C>T
More... 		10/22/2020 intron variant conflicting interpretations of pathogenicity|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_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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000382523 CLINVAR
dbSNP (RS) rs756372984 CLINVAR
MedGen C0268595 CLINVAR
NCBI Gene GCDH CLINVAR
OMIM 231670 CLINVAR
  608801 CLINVAR
SNOMED CT 76175005 CLINVAR