RGD:14730094 Rat Genome Database

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Variant: RGD:14730094 -  Homo sapiens

RGD ID: 14730094
RS ID: rs3889313
ClinVar ID: CV670128
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 51,856,641
GRCh38 19 51,353,387
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001985.3:c.217-97C>G
NM_001014763.1:c.490-97C>G
NG_007115.1:g.18032C>G
NC_000019.10:g.51353387G>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ETFB
Accession:NM_001014763
Location:INTRON

Gene Symbol:ETFB
Accession:XM_024451418
Location:INTRON

Gene Symbol:ETFB
Accession:NM_001985
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000835518 CLINVAR
dbSNP (RS) rs3889313 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ETFB CLINVAR
OMIM 130410 CLINVAR