rs78052129 Rat Genome Database

rs78052129 Rat Genome Database

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Variant: rs78052129 - Homo sapiens

RGD ID:

127286339

RS ID:

rs78052129

ClinVar ID:

CV1161922

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETFA

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	76,576,060
GRCh38	15	76,283,719

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001127716.2:c.586+38T>C NM_000126.4:c.733+38T>C NG_007077.2:g.32751T>C NC_000015.10:g.76283719A>G NC_000015.9:g.76576060A>G More...	06/10/2021	intron variant	benign	Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1161922	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP		8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:25741868

Gene Symbol:	ETFA
Accession:	NM_000126
Location:	INTRON

Gene Symbol:	ETFA
Accession:	NM_001127716
Location:	INTRON

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001526777	CLINVAR
	RCV004715477	CLINVAR
dbSNP (RS)	rs78052129	CLINVAR
MedGen	C0268596	CLINVAR
	C3661900	CLINVAR
NCBI Gene	ETFA	CLINVAR
OMIM	231680	CLINVAR
	608053	CLINVAR
SNOMED CT	22886006	CLINVAR