RGD:40904710 Rat Genome Database

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Variant: RGD:40904710 -  Homo sapiens

RGD ID: 40904710
RS ID: rs772701864
ClinVar ID: CV979670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 76,518,273
GRCh38 15 76,225,932
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127716.2:c.736-3C>T
NM_000126.4:c.883-3C>T
NG_007077.2:g.90538C>T
NC_000015.10:g.76225932G>A
More... 		10/20/2020 intron variant uncertain significance 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: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 RCV001277755 CLINVAR
dbSNP (RS) rs772701864 CLINVAR
MedGen C0268596 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 231680 CLINVAR
  608053 CLINVAR
SNOMED CT 22886006 CLINVAR