RGD:8559152 Rat Genome Database

Variant: RGD:8559152 - Homo sapiens

RGD ID:

8559152

RS ID:

rs28939711

ClinVar ID:

CV21214

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

COX15

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	101,483,814
GRCh38	10	99,724,057

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
LRG_406:g.13610C>T NG_008986.1:g.13610C>T NC_000010.11:g.99724057G>A NC_000010.10:g.101483814G>A More...	04/13/2022	missense\|missense variant	pathogenic	neonatal/infancy	1-9 / 1 000 000	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6; none provided

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

mitochondrial complex IV deficiency nuclear type 6 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	COX15
Accession:	XM_006717634
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:	COX15
Accession:	NM_078470
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALW LMNELRRVPK*

Gene Symbol:	COX15
Accession:	NM_001320974
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQTYYRTELSQKMQLHCNSTNMS*

Gene Symbol:	COX15
Accession:	NM_001372025
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILTLSSLQGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLAL LTGALWLMNELRRVPK*

Gene Symbol:	COX15
Accession:	NM_004376
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQGPVLFNFTFKISDLDEGIRNI*

Gene Symbol:	COX15
Accession:	NM_001372027
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAWAWASARC*

Gene Symbol:	COX15
Accession:	NM_001372024
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPT MVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQSFTLVAQAGVQWRDLSSLCNLHFPGSSDSHASA SRVAGTTGTSHHAWLILYF*

Gene Symbol:	COX15
Accession:	NM_001320975
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:	COX15
Accession:	NM_001372028
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGNHFSHCHYSALLPLSENSPS*

Gene Symbol:	COX15
Accession:	NM_001320976
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQ LRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITV LYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK*

Gene Symbol:	COX15
Accession:	NM_001372026
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTV AGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVG LVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPWVSQYRLAAHLGSALVLYCASLWT SLSLLLPPHKLPETHQLLQLRRFAHGTAGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRIL GITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVP K*

Gene Symbol:	COX15
Accession:	NR_164009
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:2175025	PMID:12474143	PMID:15235026	PMID:21412973	PMID:26940873	PMID:28492532	PMID:31967322	PMID:32232962

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000006551	CLINVAR
	RCV001553427	CLINVAR
	RCV002512834	CLINVAR
dbSNP (RS)	rs28939711	CLINVAR
MedGen	C0950123	CLINVAR
	C3554534	CLINVAR
	C3661900	CLINVAR
NCBI Gene	COX15	CLINVAR
OMIM	603646	CLINVAR
	615119	CLINVAR
OMIM Allele	603646.0001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8559152 - Homo sapiens

Imported Disease Annotations - ClinVar