RGD:156104902 Rat Genome Database

RGD:156104902 Rat Genome Database

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Variant: RGD:156104902 - Homo sapiens

RGD ID:

156104902

ClinVar ID:

CV1917149

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETFA

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	76,578,011
GRCh38	15	76,285,670

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001127716.2:c.484G>A NM_000126.4:c.631G>A NG_007077.2:g.30800G>A NC_000015.10:g.76285670C>T More...	11/27/2023	missense variant	uncertain significance	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)
CV1917149	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP		8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:28492532

Gene Symbol:	ETFA
Accession:	NM_001127716
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	162

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

Gene Symbol:	ETFA
Accession:	NM_000126
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	211

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQ HDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCD EKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPKLTGAKVVVSGGRGLKSGENFKLLYDLADQ LHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLF KVVPEMTEILKKK*

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002592413	CLINVAR
MedGen	C0268596	CLINVAR
NCBI Gene	ETFA	CLINVAR
OMIM	231680	CLINVAR
	608053	CLINVAR
SNOMED CT	22886006	CLINVAR