rs1327483238 Rat Genome Database

rs1327483238 Rat Genome Database

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Variant: rs1327483238 - Homo sapiens

RGD ID:

127241026

RS ID:

rs1327483238

ClinVar ID:

CV1103153

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETFA

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	76,578,051
GRCh38	15	76,285,710

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000015.10:g.76285710T>G NC_000015.9:g.76578051T>G NG_007077.2:g.30760A>C NP_001121188.1:p.Ser148= More...	09/11/2023	synonymous variant	likely benign	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)
CV1103153	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_000126
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	197

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

Gene Symbol:	ETFA
Accession:	NM_001127716
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	148

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001434339	CLINVAR
dbSNP (RS)	rs1327483238	CLINVAR
MedGen	C0268596	CLINVAR
NCBI Gene	ETFA	CLINVAR
OMIM	231680	CLINVAR
	608053	CLINVAR
SNOMED CT	22886006	CLINVAR