rs119458970 Rat Genome Database

rs119458970 Rat Genome Database

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Variant: rs119458970 - Homo sapiens

RGD ID:

8595830

RS ID:

rs119458970

ClinVar ID:

CV17633

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETFA

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	15	76,566,772
GRCh38	15	76,274,431

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.42039C>T NC_000015.10:g.76274431G>A NC_000015.9:g.76566772G>A NP_000117.1:p.Thr266Met More...	03/01/2024	missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	all ages	1-9 / 1 000 000	ETFA deficiency; ETFA-related condition; 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)
CV17633	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP		8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:12815589\|PMID:1430199\|PMID:16510302\|PMID:25741868\|PMID:26409463\|PMID:28492532\|PMID:31268564\|PMID:9334218

Gene Symbol:	ETFA
Accession:	NM_001127716
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	217

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

Gene Symbol:	ETFA
Accession:	NM_000126
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	266

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:1430199	PMID:9334218	PMID:12815589	PMID:16510302	PMID:25741868	PMID:26409463	PMID:28492532	PMID:31268564

Database	Acc Id	Source(s)
ClinVar	RCV000002712	CLINVAR
	RCV000185868	CLINVAR
	RCV000332032	CLINVAR
	RCV003904798	CLINVAR
dbSNP (RS)	rs119458970	CLINVAR
MedGen	C0268596	CLINVAR
	C3278154	CLINVAR
	C3661900	CLINVAR
NCBI Gene	ETFA	CLINVAR
OMIM	231680	CLINVAR
	608053	CLINVAR
OMIM Allele	608053.0002	CLINVAR
SNOMED CT	22886006	CLINVAR