RGD:13538229 Rat Genome Database

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Variant: RGD:13538229 -  Homo sapiens

RGD ID: 13538229
RS ID: rs758639864
ClinVar ID: CV507999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 51,850,146
GRCh38 19 51,346,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001985.2:c.597+8C>T
NG_007115.1:g.24527C>T
NC_000019.10:g.51346892G>A
NC_000019.9:g.51850146G>A
More... 		02/01/2018 intron variant likely benign AllHighlyPenetrant; Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ETFB
Accession:NM_001985
Location:INTRON

Gene Symbol:ETFB
Accession:NM_001014763
Location:INTRON

Gene Symbol:ETFB
Accession:XM_024451418
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000611522 CLINVAR
  RCV002528605 CLINVAR
dbSNP (RS) rs758639864 CLINVAR
MedGen C0268596 CLINVAR
  CN169374 CLINVAR
NCBI Gene ETFB CLINVAR
OMIM 130410 CLINVAR
  231680 CLINVAR
SNOMED CT 22886006 CLINVAR