RGD:156228987 Rat Genome Database

RGD:156228987 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:156228987 - Homo sapiens

RGD ID:

156228987

ClinVar ID:

CV2146197

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MTO1

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	6	74,176,145
GRCh38	6	73,466,422

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001123226.2:c.417+14A>G NM_012123.4:c.417+14A>G NM_133645.3:c.417+14A>G NG_032856.3:g.9687A>G More...	07/27/2022	intron variant	likely benign	CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2146197	Human	combined oxidative phosphorylation deficiency 10		IAGP		8554872	ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	ClinVar	PMID:28492532

Gene Symbol:	MTO1
Accession:	XM_047418607
Location:	INTRON

Gene Symbol:	MTO1
Accession:	XM_047418605
Location:	INTRON

Gene Symbol:	MTO1
Accession:	NM_012123
Location:	INTRON

Gene Symbol:	MTO1
Accession:	NM_133645
Location:	INTRON

Gene Symbol:	MTO1
Accession:	NM_001123226
Location:	INTRON

Gene Symbol:	MTO1
Accession:	XM_047418606
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003025571	CLINVAR
MedGen	C4749921	CLINVAR
NCBI Gene	MTO1	CLINVAR
OMIM	614667	CLINVAR
	614702	CLINVAR