RGD:14721569 Rat Genome Database

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Variant: RGD:14721569 -  Homo sapiens

RGD ID: 14721569
RS ID: rs115309755
ClinVar ID: CV667944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 76,579,934
GRCh38 15 76,287,593
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000126.4:c.451+253A>G
NG_007077.2:g.28877A>G
NC_000015.10:g.76287593T>C
NC_000015.9:g.76579934T>C
More... 		06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ETFA
Accession:NM_001127716
Location:INTRON

Gene Symbol:ETFA
Accession:NM_000126
Location:INTRON

Gene Symbol:ETFA
Accession:XR_007064434
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000831729 CLINVAR
dbSNP (RS) rs115309755 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 608053 CLINVAR