rs886051488 Rat Genome Database

rs886051488 Rat Genome Database

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Variant: rs886051488 - Homo sapiens

RGD ID:

11655425

RS ID:

rs886051488

ClinVar ID:

CV341322

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETFA

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	76,566,823
GRCh38	15	76,274,482

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.41988G>A NC_000015.10:g.76274482C>T NC_000015.9:g.76566823C>T NP_000117.1:p.Arg249His More...	07/13/2021	missense variant	uncertain significance	all ages	1-9 / 1 000 000	Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV341322	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
CV341322	Human	Glutaric Aciduria 2		IAGP		8554872	ClinVar Annotator: match by term: Glutaric acidemia type 2A	ClinVar	PMID:28492532
CV341322	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP		8554872	ClinVar Annotator: match by term: Glutaric aciduria, type 2	ClinVar	PMID:28492532

Gene Symbol:	ETFA
Accession:	NM_001127716
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFRAAAPGQLRRAVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEV APISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDR PELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASHAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAG MKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK*

Gene Symbol:	ETFA
Accession:	NM_000126
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	249

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQ HDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCD EKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQ LHAAVGASHAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLF KVVPEMTEILKKK*

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000325820	CLINVAR
	RCV001835781	CLINVAR
	RCV002520975	CLINVAR
dbSNP (RS)	rs886051488	CLINVAR
MedGen	C0268596	CLINVAR
	C0950123	CLINVAR
NCBI Gene	ETFA	CLINVAR
OMIM	231680	CLINVAR
	608053	CLINVAR
SNOMED CT	22886006	CLINVAR