rs62027051 Rat Genome Database

rs62027051 Rat Genome Database

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Variant: rs62027051 - Homo sapiens

RGD ID:

8639368

RS ID:

rs62027051

ClinVar ID:

CV98351

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETFA LOC127830281

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	15	76,603,679
GRCh38	15	76,311,338

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_007077.2:g.5132C>G NC_000015.10:g.76311338G>C NC_000015.9:g.76603679G>C NM_000126.4:c.39+12C>G More...	09/10/2021	intron\|intron variant	benign	all ages	1-9 / 1 000 000	AllHighlyPenetrant; 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)
CV98351	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP		8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:25741868\|PMID:28492532

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000078133	CLINVAR
	RCV000371483	CLINVAR
	RCV001610351	CLINVAR
dbSNP (RS)	rs62027051	CLINVAR
MedGen	C0268596	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	ETFA	CLINVAR
OMIM	231680	CLINVAR
	608053	CLINVAR
SNOMED CT	22886006	CLINVAR