rs2150044958 Rat Genome Database

rs2150044958 Rat Genome Database

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Variant: rs2150044958 - Homo sapiens

RGD ID:

126916449

RS ID:

rs2150044958

ClinVar ID:

CV1044350

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MTO1

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	74,207,492
GRCh38	6	73,497,769

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_012123.4:c.1790A>C NM_133645.3:c.1865A>C NM_001123226.2:c.1910A>C NG_032856.2:g.41039A>C More...	10/09/2020	missense variant	uncertain significance	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)
CV1044350	Human	combined oxidative phosphorylation deficiency 10		IAGP		8554872	ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 10	ClinVar	PMID:28492532

Gene Symbol:	MTO1
Accession:	NM_133645
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	622

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPDGVLLLLPRMECNGAISAHHNLPL PGYGVQYDYLDPRQITPSLETHLVQRLFFAGQINGTTGYEEAAAQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLT TLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKSIEFLSSKWKKLIPEA SISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLPEIKGVQQDEALQLPKDLD YLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQYLCDADRLQEREL*

Gene Symbol:	MTO1
Accession:	NM_001123226
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	637

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQ RLFFAGQINGTTGYEEAAAQTECCSVARLECSDMISQLQAILLPQPSLVAGTAGMHHNTQGVIAGINASLRVSRKPPFVV SRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKS IEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLPEIK GVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQY LCDADRLQEREL*

Gene Symbol:	MTO1
Accession:	NM_012123
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	597

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQ RLFFAGQINGTTGYEEAAAQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDN ADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKSIEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDS LAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLPEIKGVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTI GAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQYLCDADRLQEREL*

Gene Symbol:	MTO1
Accession:	XM_047418605
Location:	INTRON

Gene Symbol:	MTO1
Accession:	XM_047418606
Location:	INTRON

Gene Symbol:	MTO1
Accession:	XM_047418607
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001371514	CLINVAR
dbSNP (RS)	rs2150044958	CLINVAR
MedGen	C4749921	CLINVAR
NCBI Gene	MTO1	CLINVAR
OMIM	614667	CLINVAR
	614702	CLINVAR