COX15 (cytochrome c oxidase assembly homolog COX15) - Rat Genome Database

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Gene: COX15 (cytochrome c oxidase assembly homolog COX15) Homo sapiens
Analyze
Symbol: COX15
Name: cytochrome c oxidase assembly homolog COX15
RGD ID: 1323821
HGNC Page HGNC
Description: Enables molecular adaptor activity. Involved in heme A biosynthetic process and respiratory chain complex IV assembly. Acts upstream of with a positive effect on proton transmembrane transport. Located in mitochondrion and nucleoplasm. Part of cytochrome complex. Implicated in Leigh disease; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2; and hypertrophic cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CEMCOX2; COX15 cytochrome c oxidase assembly homolog; COX15 homolog, cytochrome c oxidase assembly protein; COX15, cytochrome c oxidase assembly homolog; cytochrome c oxidase assembly homolog 15; cytochrome c oxidase assembly protein COX15 homolog; cytochrome c oxidase subunit 15; MC4DN6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1099,710,868 - 99,732,127 (-)EnsemblGRCh38hg38GRCh38
GRCh381099,694,293 - 99,732,131 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710101,454,050 - 101,491,884 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610101,461,591 - 101,481,890 (-)NCBINCBI36hg18NCBI36
Build 3410101,461,595 - 101,481,890NCBI
Celera1095,205,889 - 95,229,808 (-)NCBI
Cytogenetic Map10q24.2NCBI
HuRef1095,095,974 - 95,119,811 (-)NCBIHuRef
CHM1_110101,750,991 - 101,774,908 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:2175025   PMID:9878253   PMID:11248251   PMID:12477932   PMID:15489334   PMID:16344560   PMID:17945021   PMID:19826901   PMID:20049701   PMID:20562859   PMID:20877624   PMID:21873635  
PMID:22412388   PMID:22939629   PMID:23251661   PMID:23464991   PMID:25544563   PMID:25959826   PMID:26425749   PMID:26940873   PMID:27499296   PMID:28380382   PMID:29117863   PMID:29128334  
PMID:29180619   PMID:29568061   PMID:30940648   PMID:31091453   PMID:31617661   PMID:32232962   PMID:32694731   PMID:32807901   PMID:32877691   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
COX15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1099,710,868 - 99,732,127 (-)EnsemblGRCh38hg38GRCh38
GRCh381099,694,293 - 99,732,131 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710101,454,050 - 101,491,884 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610101,461,591 - 101,481,890 (-)NCBINCBI36hg18NCBI36
Build 3410101,461,595 - 101,481,890NCBI
Celera1095,205,889 - 95,229,808 (-)NCBI
Cytogenetic Map10q24.2NCBI
HuRef1095,095,974 - 95,119,811 (-)NCBIHuRef
CHM1_110101,750,991 - 101,774,908 (-)NCBICHM1_1
Cox15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391943,721,693 - 43,741,439 (-)NCBIGRCm39mm39
GRCm39 Ensembl1943,721,693 - 43,741,439 (-)Ensembl
GRCm381943,733,254 - 43,753,000 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1943,733,254 - 43,753,000 (-)EnsemblGRCm38mm10GRCm38
MGSCv371943,807,744 - 43,827,490 (-)NCBIGRCm37mm9NCBIm37
MGSCv361943,788,436 - 43,806,292 (-)NCBImm8
Celera1944,521,185 - 44,540,963 (-)NCBICelera
Cytogenetic Map19C3NCBI
Cox15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21242,605,588 - 242,622,279 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1242,605,588 - 242,622,261 (-)Ensembl
Rnor_6.01263,494,850 - 263,511,510 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1263,494,852 - 263,511,505 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01270,939,907 - 270,956,562 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41247,077,102 - 247,093,757 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11247,191,602 - 247,208,363 (+)NCBI
Celera1238,424,532 - 238,441,036 (-)NCBICelera
Cytogenetic Map1q54NCBI
LOC102017801
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555075,600,605 - 5,617,556 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555075,600,605 - 5,617,556 (-)NCBIChiLan1.0ChiLan1.0
LOC100993532
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11099,803,670 - 99,841,554 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1099,820,763 - 99,841,554 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01096,328,841 - 96,349,655 (-)NCBIMhudiblu_PPA_v0panPan3
COX15
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12812,609,690 - 12,625,467 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2812,610,401 - 12,624,087 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2812,790,871 - 12,808,932 (-)NCBI
ROS_Cfam_1.02813,075,249 - 13,093,330 (-)NCBI
UMICH_Zoey_3.12812,622,120 - 12,640,180 (-)NCBI
UNSW_CanFamBas_1.02812,653,043 - 12,671,103 (-)NCBI
UU_Cfam_GSD_1.02812,794,631 - 12,812,729 (-)NCBI
LOC101959085
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721334,346,091 - 34,362,230 (+)NCBI
SpeTri2.0NW_004936636385,198 - 401,090 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX15
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14110,875,818 - 110,894,948 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114110,875,614 - 110,895,044 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214120,327,186 - 120,341,123 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COX15
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1992,739,137 - 92,797,190 (-)NCBI
ChlSab1.1 Ensembl992,779,573 - 92,796,943 (-)Ensembl
Vero_WHO_p1.0NW_02366604853,774,517 - 53,798,795 (-)NCBI
LOC101715399
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473711,435,006 - 11,452,934 (-)NCBI

Position Markers
RH65628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,468,515 - 101,468,681UniSTSGRCh37
Build 3610101,458,505 - 101,458,671RGDNCBI36
Celera1095,205,899 - 95,206,065RGD
Cytogenetic Map10q24UniSTS
HuRef1095,095,984 - 95,096,150UniSTS
GeneMap99-GB4 RH Map10466.3UniSTS
NCBI RH Map101089.7UniSTS
WI-13735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,473,876 - 101,474,025UniSTSGRCh37
Build 3610101,463,866 - 101,464,015RGDNCBI36
Celera1095,211,260 - 95,211,409RGD
Cytogenetic Map10q24UniSTS
HuRef1095,101,345 - 95,101,494UniSTS
GeneMap99-GB4 RH Map10466.3UniSTS
Whitehead-RH Map10556.9UniSTS
NCBI RH Map101089.7UniSTS
D10S1633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,474,025 - 101,474,193UniSTSGRCh37
Build 3610101,464,015 - 101,464,183RGDNCBI36
Celera1095,211,409 - 95,211,577RGD
Cytogenetic Map10q24UniSTS
HuRef1095,101,494 - 95,101,662UniSTS
A008T04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,489,325 - 101,489,456UniSTSGRCh37
Build 3610101,479,315 - 101,479,446RGDNCBI36
Celera1095,226,710 - 95,226,841RGD
Cytogenetic Map10q24UniSTS
HuRef1095,116,712 - 95,116,843UniSTS
GeneMap99-GB4 RH Map10463.49UniSTS
NCBI RH Map101089.7UniSTS
RH44559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,471,735 - 101,471,910UniSTSGRCh37
Build 3610101,461,725 - 101,461,900RGDNCBI36
Celera1095,209,119 - 95,209,294RGD
Cytogenetic Map10q24UniSTS
HuRef1446,536,318 - 46,536,493UniSTS
HuRef835,902,098 - 35,902,600UniSTS
HuRef1095,099,204 - 95,099,379UniSTS
GeneMap99-GB4 RH Map10466.3UniSTS
NCBI RH Map101089.7UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1308
Count of miRNA genes:753
Interacting mature miRNAs:846
Transcripts:ENST00000016171, ENST00000370483, ENST00000497381
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2323 2018 1573 469 1542 329 4219 1856 2750 374 1443 1544 157 1 1146 2680 5 1
Low 116 973 153 155 409 136 137 341 984 45 17 69 18 58 108 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_078470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF026850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI760159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX413913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB094258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000016171   ⟹   ENSP00000016171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1099,710,868 - 99,732,127 (-)Ensembl
RefSeq Acc Id: ENST00000370483   ⟹   ENSP00000359514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1099,711,844 - 99,732,100 (-)Ensembl
RefSeq Acc Id: ENST00000497381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1099,714,652 - 99,716,646 (-)Ensembl
RefSeq Acc Id: NM_001320974   ⟹   NP_001307903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,694,293 - 99,732,127 (-)NCBI
CHM1_110101,737,031 - 101,774,908 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320975   ⟹   NP_001307904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
CHM1_110101,753,111 - 101,774,908 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320976   ⟹   NP_001307905
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
CHM1_110101,753,111 - 101,774,908 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372024   ⟹   NP_001358953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
RefSeq Acc Id: NM_001372025   ⟹   NP_001358954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
RefSeq Acc Id: NM_001372026   ⟹   NP_001358955
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
RefSeq Acc Id: NM_001372027   ⟹   NP_001358956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
RefSeq Acc Id: NM_001372028   ⟹   NP_001358957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
RefSeq Acc Id: NM_004376   ⟹   NP_004367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
GRCh3710101,455,886 - 101,492,423 (-)NCBI
Build 3610101,461,591 - 101,481,890 (-)NCBI Archive
Celera1095,205,889 - 95,229,808 (-)RGD
HuRef1095,095,974 - 95,119,811 (-)ENTREZGENE
CHM1_110101,753,111 - 101,774,908 (-)NCBI
Sequence:
RefSeq Acc Id: NM_078470   ⟹   NP_510870
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
GRCh3710101,455,886 - 101,492,423 (-)NCBI
Build 3610101,461,591 - 101,481,890 (-)NCBI Archive
Celera1095,205,889 - 95,229,808 (-)RGD
HuRef1095,095,974 - 95,119,811 (-)ENTREZGENE
CHM1_110101,753,111 - 101,774,908 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164009
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,710,868 - 99,732,127 (-)NCBI
RefSeq Acc Id: XM_006717634   ⟹   XP_006717697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,696,117 - 99,732,131 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539298   ⟹   XP_011537600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,711,844 - 99,732,131 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_510870   ⟸   NM_078470
- Peptide Label: isoform 1
- UniProtKB: Q7KZN9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004367   ⟸   NM_004376
- Peptide Label: isoform 2
- UniProtKB: Q7KZN9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717697   ⟸   XM_006717634
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537600   ⟸   XM_011539298
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001307903   ⟸   NM_001320974
- Peptide Label: isoform 2
- UniProtKB: Q7KZN9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307905   ⟸   NM_001320976
- Peptide Label: isoform 4
- UniProtKB: Q7KZN9 (UniProtKB/Swiss-Prot),   B4DQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307904   ⟸   NM_001320975
- Peptide Label: isoform 3
- UniProtKB: Q7KZN9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001358955   ⟸   NM_001372026
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001358957   ⟸   NM_001372028
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001358956   ⟸   NM_001372027
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001358953   ⟸   NM_001372024
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001358954   ⟸   NM_001372025
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000359514   ⟸   ENST00000370483
RefSeq Acc Id: ENSP00000016171   ⟸   ENST00000016171

Promoters
RGD ID:7218381
Promoter ID:EPDNEW_H14936
Type:initiation region
Name:COX15_1
Description:COX15, cytochrome c oxidase assembly homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,732,095 - 99,732,155EPDNEW
RGD ID:6787466
Promoter ID:HG_KWN:10825
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_004376,   NM_078470,   OTTHUMT00000049821
Position:
Human AssemblyChrPosition (strand)Source
Build 3610101,481,816 - 101,482,572 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000033253]|not provided [RCV000413484] Chr10:99716419 [GRCh38]
Chr10:101476176 [GRCh37]
Chr10:10q24.2
pathogenic|likely pathogenic
COX15, SER151TER variation Congenital myasthenic syndrome, acetazolamide-responsive [RCV000033254]|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000033254] Chr10:10q24 pathogenic
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000006551]|not provided [RCV001553427] Chr10:99724057 [GRCh38]
Chr10:101483814 [GRCh37]
Chr10:10q24.2
pathogenic
COX15, IVS3, C-G, -3 single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000006553] Chr10:10q24 pathogenic
NM_078470.6(COX15):c.784C>T (p.Arg262Ter) single nucleotide variant Leigh syndrome [RCV000778265] Chr10:99721035 [GRCh38]
Chr10:101480792 [GRCh37]
Chr10:10q24.2
uncertain significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3 copy number gain See cases [RCV000051647] Chr10:99333940..100475567 [GRCh38]
Chr10:101093697..102235324 [GRCh37]
Chr10:101083687..102225314 [NCBI36]
Chr10:10q24.2-24.31
uncertain significance
GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3 copy number gain See cases [RCV000051649] Chr10:99716324..99999957 [GRCh38]
Chr10:101476081..101759714 [GRCh37]
Chr10:101466071..101749704 [NCBI36]
Chr10:10q24.2
uncertain significance
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
NM_020354.3(ENTPD7):c.1010+870A>G single nucleotide variant Lung cancer [RCV000108520] Chr10:99696992 [GRCh38]
Chr10:101456749 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.3(ENTPD7):c.*3469G>A single nucleotide variant Lung cancer [RCV000108521] Chr10:99708152 [GRCh38]
Chr10:101467909 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1126T>C single nucleotide variant Leigh syndrome [RCV000259999]|not provided [RCV000676871]|not specified [RCV000116814] Chr10:99713461 [GRCh38]
Chr10:101473218 [GRCh37]
Chr10:10q24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_078470.6(COX15):c.-23G>T single nucleotide variant Leigh syndrome [RCV001103675]|not specified [RCV000124576] Chr10:99732072 [GRCh38]
Chr10:101491829 [GRCh37]
Chr10:10q24.2
benign|uncertain significance
NM_078470.6(COX15):c.90+16G>A single nucleotide variant not specified [RCV000124577] Chr10:99731944 [GRCh38]
Chr10:101491701 [GRCh37]
Chr10:10q24.2
benign
NM_078470.6(COX15):c.988-8C>A single nucleotide variant Leigh syndrome [RCV001106672]|not provided [RCV000426006]|not specified [RCV000124578] Chr10:99716469 [GRCh38]
Chr10:101476226 [GRCh37]
Chr10:10q24.2
benign|likely benign|uncertain significance
NM_078470.6(COX15):c.1209T>C (p.Asn403=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000755986]|not specified [RCV000124579] Chr10:99714611 [GRCh38]
Chr10:101474368 [GRCh37]
Chr10:10q24.2
benign
NM_078470.4:c.+1126T>C single nucleotide variant not provided [RCV000124580] Chr10:10q24.2 benign
NM_078470.6(COX15):c.548G>A (p.Arg183His) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV001001608]|Leigh syndrome [RCV001108829]|not provided [RCV000947276]|not specified [RCV000124581] Chr10:99727002 [GRCh38]
Chr10:101486759 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV001331215] Chr10:99727531 [GRCh38]
Chr10:101487288 [GRCh37]
Chr10:10q24.2
pathogenic
NM_078470.6(COX15):c.1026C>T (p.Phe342=) single nucleotide variant not provided [RCV000755985]|not specified [RCV000180245] Chr10:99716423 [GRCh38]
Chr10:101476180 [GRCh37]
Chr10:10q24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_078470.6(COX15):c.582+62_582+63dup duplication not provided [RCV001545504] Chr10:99726887..99726888 [GRCh38]
Chr10:101486644..101486645 [GRCh37]
Chr10:10q24.2
likely benign
GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3 copy number gain See cases [RCV000135650] Chr10:99386632..100648221 [GRCh38]
Chr10:101146389..102407978 [GRCh37]
Chr10:101136379..102397968 [NCBI36]
Chr10:10q24.2-24.31
uncertain significance
NM_078470.6(COX15):c.794A>G (p.His265Arg) single nucleotide variant not provided [RCV000200399] Chr10:99721025 [GRCh38]
Chr10:101480782 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.5(COX15):c.121G>T (p.Gly41Trp) single nucleotide variant not specified [RCV000196937] Chr10:99729704 [GRCh38]
Chr10:101489461 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.1015G>A (p.Val339Met) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV001336681]|not specified [RCV000200757] Chr10:99716434 [GRCh38]
Chr10:101476191 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.6(COX15):c.164G>A (p.Arg55Lys) single nucleotide variant Leigh syndrome [RCV000291406]|not specified [RCV000197287] Chr10:99729661 [GRCh38]
Chr10:101489418 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.6(COX15):c.913C>T (p.Leu305Phe) single nucleotide variant not provided [RCV000197413] Chr10:99718420 [GRCh38]
Chr10:101478177 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.281A>C (p.Glu94Ala) single nucleotide variant not provided [RCV000197734] Chr10:99727555 [GRCh38]
Chr10:101487312 [GRCh37]
Chr10:10q24.2
likely pathogenic
NM_078470.6(COX15):c.1000G>T (p.Val334Phe) single nucleotide variant not provided [RCV000994490]|not specified [RCV000198175] Chr10:99716449 [GRCh38]
Chr10:101476206 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.6(COX15):c.106C>T (p.Arg36Cys) single nucleotide variant not specified [RCV000198373] Chr10:99729719 [GRCh38]
Chr10:101489476 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.395+20_395+26del deletion not specified [RCV000198495] Chr10:99727415..99727421 [GRCh38]
Chr10:101487172..101487178 [GRCh37]
Chr10:10q24.2
likely pathogenic|benign
NM_078470.5(COX15):c.1181T>C (p.Leu394Ser) single nucleotide variant not provided [RCV000199309] Chr10:99714639 [GRCh38]
Chr10:101474396 [GRCh37]
Chr10:10q24.2
likely pathogenic
NM_078470.5(COX15):c.1200G>C (p.Trp400Cys) single nucleotide variant not provided [RCV000195737] Chr10:99714620 [GRCh38]
Chr10:101474377 [GRCh37]
Chr10:10q24.2
likely pathogenic
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) single nucleotide variant Leigh syndrome [RCV000321049]|not provided [RCV000195853] Chr10:99718404 [GRCh38]
Chr10:101478161 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.520G>A (p.Gly174Ser) single nucleotide variant not provided [RCV000195969] Chr10:99727030 [GRCh38]
Chr10:101486787 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.83G>C (p.Arg28Thr) single nucleotide variant not specified [RCV000199425] Chr10:99731967 [GRCh38]
Chr10:101491724 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.5(COX15):c.476T>G (p.Val159Gly) single nucleotide variant not specified [RCV000199624] Chr10:99727074 [GRCh38]
Chr10:101486831 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.155A>G (p.Gln52Arg) single nucleotide variant not specified [RCV000200181] Chr10:99729670 [GRCh38]
Chr10:101489427 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.396-3C>G single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000006553]|not provided [RCV000266470] Chr10:99727157 [GRCh38]
Chr10:101486914 [GRCh37]
Chr10:10q24.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020354.5(ENTPD7):c.1311del (p.Pro438fs) deletion not specified [RCV000239159] Chr10:99698832 [GRCh38]
Chr10:101458589 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.821C>T (p.Thr274Met) single nucleotide variant not provided [RCV000658576] Chr10:99720998 [GRCh38]
Chr10:101480755 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.406G>C (p.Asp136His) single nucleotide variant Leigh syndrome [RCV000345111] Chr10:99727144 [GRCh38]
Chr10:101486901 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.-26A>G single nucleotide variant Leigh syndrome [RCV000370770] Chr10:99732075 [GRCh38]
Chr10:101491832 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5889A>G single nucleotide variant Leigh syndrome [RCV000397123] Chr10:99710572 [GRCh38]
Chr10:101470329 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.988-3C>T single nucleotide variant Leigh syndrome [RCV000284765] Chr10:99716464 [GRCh38]
Chr10:101476221 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.582+14A>G single nucleotide variant Leigh syndrome [RCV000285899]|not provided [RCV001523675]|not specified [RCV000443501] Chr10:99726954 [GRCh38]
Chr10:101486711 [GRCh37]
Chr10:10q24.2
benign|uncertain significance
NM_078470.6(COX15):c.*3417T>C single nucleotide variant Leigh syndrome [RCV000303474] Chr10:99711170 [GRCh38]
Chr10:101470927 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) single nucleotide variant Leigh syndrome [RCV000398229] Chr10:99729694 [GRCh38]
Chr10:101489451 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2857A>G single nucleotide variant Leigh syndrome [RCV000325749] Chr10:99711730 [GRCh38]
Chr10:101471487 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.61+75G>A single nucleotide variant Leigh syndrome [RCV000288170] Chr10:99732484 [GRCh38]
Chr10:101492241 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_020354.5(ENTPD7):c.*5645C>A single nucleotide variant Leigh syndrome [RCV000349429] Chr10:99710328 [GRCh38]
Chr10:101470085 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2282G>A single nucleotide variant Leigh syndrome [RCV000375739] Chr10:99712305 [GRCh38]
Chr10:101472062 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5165G>A single nucleotide variant Leigh syndrome [RCV000289074] Chr10:99709848 [GRCh38]
Chr10:101469605 [GRCh37]
Chr10:10q24.2
benign
NM_078470.6(COX15):c.*1716G>A single nucleotide variant Leigh syndrome [RCV000307331] Chr10:99712871 [GRCh38]
Chr10:101472628 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5070A>G single nucleotide variant Leigh syndrome [RCV000328704] Chr10:99709753 [GRCh38]
Chr10:101469510 [GRCh37]
Chr10:10q24.2
likely benign
NM_015960.3(CUTC):c.61+112A>G single nucleotide variant Leigh syndrome [RCV000329155] Chr10:99732521 [GRCh38]
Chr10:101492278 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_004376.6(COX15):c.-114A>G single nucleotide variant Leigh syndrome [RCV000353428] Chr10:99732163 [GRCh38]
Chr10:101491920 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.61+46G>C single nucleotide variant Leigh syndrome [RCV000378719] Chr10:99732455 [GRCh38]
Chr10:101492212 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1197T>C single nucleotide variant Leigh syndrome [RCV000354834] Chr10:99713390 [GRCh38]
Chr10:101473147 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_020354.5(ENTPD7):c.*5084T>A single nucleotide variant Mitochondrial complex IV deficiency [RCV000381009] Chr10:99709767 [GRCh38]
Chr10:101469524 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.107G>A (p.Arg36His) single nucleotide variant Mitochondrial complex IV deficiency [RCV000311404] Chr10:99729718 [GRCh38]
Chr10:101489475 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1309T>C single nucleotide variant Leigh syndrome [RCV000332883] Chr10:99713278 [GRCh38]
Chr10:101473035 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4296T>C single nucleotide variant Leigh syndrome [RCV000356005] Chr10:99708979 [GRCh38]
Chr10:101468736 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2755del deletion Mitochondrial complex IV deficiency [RCV000382425] Chr10:99711832 [GRCh38]
Chr10:101471589 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.61+237T>G single nucleotide variant Leigh syndrome [RCV000383808] Chr10:99732646 [GRCh38]
Chr10:101492403 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_020354.5(ENTPD7):c.*4292C>T single nucleotide variant Mitochondrial complex IV deficiency [RCV000312805] Chr10:99708975 [GRCh38]
Chr10:101468732 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2649G>A single nucleotide variant Leigh syndrome [RCV000386007] Chr10:99711938 [GRCh38]
Chr10:101471695 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_004376.6(COX15):c.-133T>C single nucleotide variant Leigh syndrome [RCV000263213] Chr10:99732182 [GRCh38]
Chr10:101491939 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2193A>T single nucleotide variant Leigh syndrome [RCV000278990] Chr10:99712394 [GRCh38]
Chr10:101472151 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*3485dup duplication Mitochondrial complex IV deficiency [RCV000361237] Chr10:99711101..99711102 [GRCh38]
Chr10:101470858..101470859 [GRCh37]
Chr10:10q24.2
benign
NM_020354.5(ENTPD7):c.*4339C>T single nucleotide variant Leigh syndrome [RCV000263601] Chr10:99709022 [GRCh38]
Chr10:101468779 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5463T>G single nucleotide variant Leigh syndrome [RCV000389345] Chr10:99710146 [GRCh38]
Chr10:101469903 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_015960.3(CUTC):c.39G>A (p.Ala13=) single nucleotide variant Leigh syndrome [RCV000264245] Chr10:99732387 [GRCh38]
Chr10:101492144 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_004376.6(COX15):c.-84G>A single nucleotide variant Leigh syndrome [RCV000298560] Chr10:99732133 [GRCh38]
Chr10:101491890 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4513G>A single nucleotide variant Leigh syndrome [RCV000316200] Chr10:99709196 [GRCh38]
Chr10:101468953 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.6(COX15):c.*1793G>A single nucleotide variant Leigh syndrome [RCV000340075] Chr10:99712794 [GRCh38]
Chr10:101472551 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*6091A>C single nucleotide variant Leigh syndrome [RCV000390482] Chr10:99710774 [GRCh38]
Chr10:101470531 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_020354.5(ENTPD7):c.*4621A>C single nucleotide variant Leigh syndrome [RCV000267088] Chr10:99709304 [GRCh38]
Chr10:101469061 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1122C>G single nucleotide variant Leigh syndrome [RCV000319874] Chr10:99713465 [GRCh38]
Chr10:101473222 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1693G>A single nucleotide variant Leigh syndrome [RCV000366663] Chr10:99712894 [GRCh38]
Chr10:101472651 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.6(COX15):c.*1776T>A single nucleotide variant Leigh syndrome [RCV000394009] Chr10:99712811 [GRCh38]
Chr10:101472568 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1851G>T single nucleotide variant Leigh syndrome [RCV000394010] Chr10:99712736 [GRCh38]
Chr10:101472493 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*3247T>C single nucleotide variant Leigh syndrome [RCV000365134] Chr10:99711340 [GRCh38]
Chr10:101471097 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*3484_*3485dup duplication Mitochondrial complex IV deficiency [RCV000264324] Chr10:99711101..99711102 [GRCh38]
Chr10:101470858..101470859 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5002G>C single nucleotide variant Leigh syndrome [RCV000271422] Chr10:99709685 [GRCh38]
Chr10:101469442 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1594C>G single nucleotide variant Leigh syndrome [RCV000272094] Chr10:99712993 [GRCh38]
Chr10:101472750 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4914T>C single nucleotide variant Leigh syndrome [RCV000324540] Chr10:99709597 [GRCh38]
Chr10:101469354 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.161G>A (p.Gly54Glu) single nucleotide variant Leigh syndrome [RCV000346270] Chr10:99729664 [GRCh38]
Chr10:101489421 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.255T>C (p.Ile85=) single nucleotide variant Leigh syndrome [RCV000396573] Chr10:99729570 [GRCh38]
Chr10:101489327 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4258A>G single nucleotide variant Leigh syndrome [RCV000371158] Chr10:99708941 [GRCh38]
Chr10:101468698 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.6(COX15):c.*2898A>G single nucleotide variant Leigh syndrome [RCV000273011] Chr10:99711689 [GRCh38]
Chr10:101471446 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1850G>T single nucleotide variant Leigh syndrome [RCV000306176] Chr10:99712737 [GRCh38]
Chr10:101472494 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.1029C>A (p.Leu343=) single nucleotide variant Leigh syndrome [RCV000374551] Chr10:99716420 [GRCh38]
Chr10:101476177 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5401T>C single nucleotide variant Leigh syndrome [RCV000350997] Chr10:99710084 [GRCh38]
Chr10:101469841 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2701A>G single nucleotide variant Leigh syndrome [RCV000276513] Chr10:99711886 [GRCh38]
Chr10:101471643 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5989T>C single nucleotide variant Leigh syndrome [RCV000334736] Chr10:99710672 [GRCh38]
Chr10:101470429 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1361C>T single nucleotide variant Leigh syndrome [RCV000277894] Chr10:99713226 [GRCh38]
Chr10:101472983 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000033254]|Leigh syndrome [RCV000586150]|not provided [RCV000599531] Chr10:99727098 [GRCh38]
Chr10:101486855 [GRCh37]
Chr10:10q24.2
pathogenic|likely pathogenic|uncertain significance
NM_078470.6(COX15):c.717G>T (p.Trp239Cys) single nucleotide variant Leigh syndrome [RCV000380272] Chr10:99723989 [GRCh38]
Chr10:101483746 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.-71T>C single nucleotide variant Leigh syndrome [RCV000399762] Chr10:99732120 [GRCh38]
Chr10:101491877 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.41G>C (p.Gly14Ala) single nucleotide variant not provided [RCV000596802] Chr10:99732009 [GRCh38]
Chr10:101491766 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5521G>A single nucleotide variant Leigh syndrome [RCV000292710] Chr10:99710204 [GRCh38]
Chr10:101469961 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*3670G>A single nucleotide variant Leigh syndrome [RCV000304295] Chr10:99710917 [GRCh38]
Chr10:101470674 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.61+242G>T single nucleotide variant Leigh syndrome [RCV000293898] Chr10:99732651 [GRCh38]
Chr10:101492408 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2490T>C single nucleotide variant Leigh syndrome [RCV000294256] Chr10:99712097 [GRCh38]
Chr10:101471854 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.-68G>A single nucleotide variant Leigh syndrome [RCV000318410] Chr10:99732281 [GRCh38]
Chr10:101492038 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2668C>G single nucleotide variant Leigh syndrome [RCV000333899] Chr10:99711919 [GRCh38]
Chr10:101471676 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1429_*1430del deletion Mitochondrial complex IV deficiency [RCV000367730] Chr10:99713157..99713158 [GRCh38]
Chr10:101472914..101472915 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2060C>T single nucleotide variant Leigh syndrome [RCV000336530] Chr10:99712527 [GRCh38]
Chr10:101472284 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2459G>T single nucleotide variant Leigh syndrome [RCV000337594] Chr10:99712128 [GRCh38]
Chr10:101471885 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4579G>A single nucleotide variant Leigh syndrome [RCV000354673] Chr10:99709262 [GRCh38]
Chr10:101469019 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.61+38G>T single nucleotide variant Mitochondrial complex IV deficiency [RCV000324202] Chr10:99732447 [GRCh38]
Chr10:101492204 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.8G>C (p.Arg3Thr) single nucleotide variant Leigh syndrome [RCV000359052] Chr10:99732356 [GRCh38]
Chr10:101492113 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5890C>T single nucleotide variant Leigh syndrome [RCV000300873] Chr10:99710573 [GRCh38]
Chr10:101470330 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1474C>T single nucleotide variant Leigh syndrome [RCV000313072] Chr10:99713113 [GRCh38]
Chr10:101472870 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4976C>T single nucleotide variant Leigh syndrome [RCV000377611] Chr10:99709659 [GRCh38]
Chr10:101469416 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4290C>G single nucleotide variant Leigh syndrome [RCV000398596] Chr10:99708973 [GRCh38]
Chr10:101468730 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.90+159C>T single nucleotide variant not provided [RCV001564959] Chr10:99731801 [GRCh38]
Chr10:101491558 [GRCh37]
Chr10:10q24.2
likely benign
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
NM_078470.6(COX15):c.933C>G (p.Ile311Met) single nucleotide variant not provided [RCV000728523]|not specified [RCV000434228] Chr10:99718400 [GRCh38]
Chr10:101478157 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
NM_078470.6(COX15):c.1122G>A (p.Thr374=) single nucleotide variant not specified [RCV000429741] Chr10:99714698 [GRCh38]
Chr10:101474455 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.582+15A>G single nucleotide variant not specified [RCV000433444] Chr10:99726953 [GRCh38]
Chr10:101486710 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.918T>C (p.Phe306=) single nucleotide variant not specified [RCV000420200] Chr10:99718415 [GRCh38]
Chr10:101478172 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.696T>G (p.Val232=) single nucleotide variant not specified [RCV000427028] Chr10:99724010 [GRCh38]
Chr10:101483767 [GRCh37]
Chr10:10q24.2
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_078470.6(COX15):c.281_282del (p.Glu94fs) microsatellite not provided [RCV000493741] Chr10:99727554..99727555 [GRCh38]
Chr10:101487311..101487312 [GRCh37]
Chr10:10q24.2
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
NM_078470.6(COX15):c.612T>C (p.Ser204=) single nucleotide variant not specified [RCV000615058] Chr10:99724094 [GRCh38]
Chr10:101483851 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.795T>C (p.His265=) single nucleotide variant not provided [RCV000920013]|not specified [RCV000610021] Chr10:99721024 [GRCh38]
Chr10:101480781 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.474T>C (p.Leu158=) single nucleotide variant not provided [RCV000880651]|not specified [RCV000615964] Chr10:99727076 [GRCh38]
Chr10:101486833 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.90+8A>T single nucleotide variant not specified [RCV000612928] Chr10:99731952 [GRCh38]
Chr10:101491709 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.751-17dup duplication not specified [RCV000613363] Chr10:99721077..99721078 [GRCh38]
Chr10:101480834..101480835 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.750+8T>C single nucleotide variant not specified [RCV000616676] Chr10:99723948 [GRCh38]
Chr10:101483705 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.532C>T (p.Arg178Cys) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 [RCV000625907] Chr10:99727018 [GRCh38]
Chr10:101486775 [GRCh37]
Chr10:10q24.2
likely pathogenic|uncertain significance
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_078470.6(COX15):c.*316A>G single nucleotide variant not provided [RCV001567135] Chr10:99714271 [GRCh38]
Chr10:101474028 [GRCh37]
Chr10:10q24.2
likely benign
NM_015960.3(CUTC):c.61+596dup duplication not provided [RCV001567700] Chr10:99732999..99733000 [GRCh38]
Chr10:101492756..101492757 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.750+96G>C single nucleotide variant not provided [RCV001575294] Chr10:99723860 [GRCh38]
Chr10:101483617 [GRCh37]
Chr10:10q24.2
likely benign
NM_015960.3(CUTC):c.61+511G>A single nucleotide variant not provided [RCV001568463] Chr10:99732920 [GRCh38]
Chr10:101492677 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.751-103G>A single nucleotide variant not provided [RCV001576040] Chr10:99721171 [GRCh38]
Chr10:101480928 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.171A>G (p.Thr57=) single nucleotide variant not provided [RCV000924945] Chr10:99729654 [GRCh38]
Chr10:101489411 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.135C>T (p.Thr45=) single nucleotide variant not specified [RCV000780200] Chr10:99729690 [GRCh38]
Chr10:101489447 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) single nucleotide variant Leigh syndrome [RCV001108828]|not provided [RCV000898890] Chr10:99724042 [GRCh38]
Chr10:101483799 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_078470.6(COX15):c.115A>C (p.Arg39=) single nucleotide variant not provided [RCV000895167] Chr10:99729710 [GRCh38]
Chr10:101489467 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.1040T>C (p.Ile347Thr) single nucleotide variant not provided [RCV000896536] Chr10:99716409 [GRCh38]
Chr10:101476166 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.90+27C>A single nucleotide variant not provided [RCV000833887] Chr10:99731933 [GRCh38]
Chr10:101491690 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.395+97G>A single nucleotide variant not provided [RCV000835728] Chr10:99727344 [GRCh38]
Chr10:101487101 [GRCh37]
Chr10:10q24.2
benign
NM_078470.6(COX15):c.987+3A>G single nucleotide variant not provided [RCV000842397] Chr10:99718343 [GRCh38]
Chr10:101478100 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.*809G>A single nucleotide variant not provided [RCV000843596] Chr10:99713778 [GRCh38]
Chr10:101473535 [GRCh37]
Chr10:10q24.2
benign
NM_078470.6(COX15):c.832+194A>C single nucleotide variant not provided [RCV000833957] Chr10:99720793 [GRCh38]
Chr10:101480550 [GRCh37]
Chr10:10q24.2
benign
NM_078470.6(COX15):c.*3638C>T single nucleotide variant Leigh syndrome [RCV001103500] Chr10:99710949 [GRCh38]
Chr10:101470706 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2620C>T single nucleotide variant Leigh syndrome [RCV001106561] Chr10:99711967 [GRCh38]
Chr10:101471724 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.-50C>G single nucleotide variant Leigh syndrome [RCV001106764] Chr10:99732299 [GRCh38]
Chr10:101492056 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.-35A>C single nucleotide variant Leigh syndrome [RCV001106765] Chr10:99732314 [GRCh38]
Chr10:101492071 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*3362T>C single nucleotide variant Leigh syndrome [RCV001105413] Chr10:99711225 [GRCh38]
Chr10:101470982 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2850A>G single nucleotide variant Leigh syndrome [RCV001105415] Chr10:99711737 [GRCh38]
Chr10:101471494 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2301G>A single nucleotide variant Leigh syndrome [RCV001108737] Chr10:99712286 [GRCh38]
Chr10:101472043 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1957A>C single nucleotide variant Leigh syndrome [RCV001108739] Chr10:99712630 [GRCh38]
Chr10:101472387 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1242A>G single nucleotide variant Leigh syndrome [RCV001105517] Chr10:99713345 [GRCh38]
Chr10:101473102 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1590A>C single nucleotide variant Leigh syndrome [RCV001105514] Chr10:99712997 [GRCh38]
Chr10:101472754 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.583-78dup duplication not provided [RCV001566573] Chr10:99724194..99724195 [GRCh38]
Chr10:101483951..101483952 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.988-136G>A single nucleotide variant not provided [RCV001574884] Chr10:99716597 [GRCh38]
Chr10:101476354 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.329C>T (p.Pro110Leu) single nucleotide variant not provided [RCV001553384] Chr10:99727507 [GRCh38]
Chr10:101487264 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.694G>T (p.Val232Phe) single nucleotide variant Cardiomyopathy [RCV000852421] Chr10:99724012 [GRCh38]
Chr10:101483769 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.1092G>A (p.Ala364=) single nucleotide variant not provided [RCV000959120] Chr10:99716357 [GRCh38]
Chr10:101476114 [GRCh37]
Chr10:10q24.2
likely benign
NM_020354.5(ENTPD7):c.*5079T>C single nucleotide variant Leigh syndrome [RCV001106460] Chr10:99709762 [GRCh38]
Chr10:101469519 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5113T>C single nucleotide variant Leigh syndrome [RCV001106461] Chr10:99709796 [GRCh38]
Chr10:101469553 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2745T>G single nucleotide variant Leigh syndrome [RCV001106560] Chr10:99711842 [GRCh38]
Chr10:101471599 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2595C>T single nucleotide variant Leigh syndrome [RCV001106562] Chr10:99711992 [GRCh38]
Chr10:101471749 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2594T>G single nucleotide variant Leigh syndrome [RCV001106563] Chr10:99711993 [GRCh38]
Chr10:101471750 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5520C>T single nucleotide variant Leigh syndrome [RCV001108657] Chr10:99710203 [GRCh38]
Chr10:101469960 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.768A>G (p.Gln256=) single nucleotide variant not provided [RCV000912363] Chr10:99721051 [GRCh38]
Chr10:101480808 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.1068A>G (p.Ala356=) single nucleotide variant not provided [RCV000913999] Chr10:99716381 [GRCh38]
Chr10:101476138 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.906G>A (p.Pro302=) single nucleotide variant not provided [RCV000912570] Chr10:99718427 [GRCh38]
Chr10:101478184 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.987+247C>G single nucleotide variant not provided [RCV001557595] Chr10:99718099 [GRCh38]
Chr10:101477856 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.635C>T (p.Ser212Phe) single nucleotide variant not provided [RCV001572838] Chr10:99724071 [GRCh38]
Chr10:101483828 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.84A>G (p.Arg28=) single nucleotide variant Leigh syndrome [RCV001103674] Chr10:99731966 [GRCh38]
Chr10:101491723 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*6030G>A single nucleotide variant Leigh syndrome [RCV001103499] Chr10:99710713 [GRCh38]
Chr10:101470470 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1876A>G single nucleotide variant Leigh syndrome [RCV001103578] Chr10:99712711 [GRCh38]
Chr10:101472468 [GRCh37]
Chr10:10q24.2
likely benign
NM_078470.6(COX15):c.*2839G>T single nucleotide variant Leigh syndrome [RCV001105416] Chr10:99711748 [GRCh38]
Chr10:101471505 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4550G>T single nucleotide variant Leigh syndrome [RCV001105331] Chr10:99709233 [GRCh38]
Chr10:101468990 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4789T>C single nucleotide variant Leigh syndrome [RCV001105332] Chr10:99709472 [GRCh38]
Chr10:101469229 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1591C>T single nucleotide variant Leigh syndrome [RCV001105513] Chr10:99712996 [GRCh38]
Chr10:101472753 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5167G>A single nucleotide variant Leigh syndrome [RCV001108654] Chr10:99709850 [GRCh38]
Chr10:101469607 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5320C>G single nucleotide variant Leigh syndrome [RCV001108656] Chr10:99710003 [GRCh38]
Chr10:101469760 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2167A>G single nucleotide variant Leigh syndrome [RCV001108738] Chr10:99712420 [GRCh38]
Chr10:101472177 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.495G>T (p.Leu165=) single nucleotide variant Leigh syndrome [RCV001108830] Chr10:99727055 [GRCh38]
Chr10:101486812 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.61+226G>A single nucleotide variant Leigh syndrome [RCV001107398] Chr10:99732635 [GRCh38]
Chr10:101492392 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_015960.3(CUTC):c.61+230C>T single nucleotide variant Leigh syndrome [RCV001107399] Chr10:99732639 [GRCh38]
Chr10:101492396 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*5261C>G single nucleotide variant Leigh syndrome [RCV001108655] Chr10:99709944 [GRCh38]
Chr10:101469701 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.832+9C>T single nucleotide variant Leigh syndrome [RCV001108826] Chr10:99720978 [GRCh38]
Chr10:101480735 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.362T>C (p.Phe121Ser) single nucleotide variant not provided [RCV001171777] Chr10:99727474 [GRCh38]
Chr10:101487231 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1362G>A single nucleotide variant Leigh syndrome [RCV001105515] Chr10:99713225 [GRCh38]
Chr10:101472982 [GRCh37]
Chr10:10q24.2
uncertain significance
NC_000010.11:g.99732191T>G single nucleotide variant Leigh syndrome [RCV001105627] Chr10:99732191 [GRCh38]
Chr10:101491948 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2959G>C single nucleotide variant Leigh syndrome [RCV001105414] Chr10:99711628 [GRCh38]
Chr10:101471385 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*1349A>C single nucleotide variant Leigh syndrome [RCV001105516] Chr10:99713238 [GRCh38]
Chr10:101472995 [GRCh37]
Chr10:10q24.2
uncertain significance
NC_000010.11:g.99732198C>A single nucleotide variant Leigh syndrome [RCV001105628] Chr10:99732198 [GRCh38]
Chr10:101491955 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4931G>T single nucleotide variant Leigh syndrome [RCV001106459] Chr10:99709614 [GRCh38]
Chr10:101469371 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.*2301G>C single nucleotide variant Leigh syndrome [RCV001108736] Chr10:99712286 [GRCh38]
Chr10:101472043 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.841G>A (p.Val281Met) single nucleotide variant Leigh syndrome [RCV001108825] Chr10:99718492 [GRCh38]
Chr10:101478249 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.665G>A (p.Arg222His) single nucleotide variant Leigh syndrome [RCV001108827] Chr10:99724041 [GRCh38]
Chr10:101483798 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_078470.6(COX15):c.293C>T (p.Ser98Leu) single nucleotide variant Leigh syndrome [RCV001103673] Chr10:99727543 [GRCh38]
Chr10:101487300 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_020354.5(ENTPD7):c.*4519C>T single nucleotide variant Leigh syndrome [RCV001105330] Chr10:99709202 [GRCh38]
Chr10:101468959 [GRCh37]
Chr10:10q24.2
uncertain significance
NC_000010.10:g.(?_101478103)_(101478257_?)del deletion not provided [RCV001387488] Chr10:101478103..101478257 [GRCh37]
Chr10:10q24.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2263 AgrOrtholog
COSMIC COX15 COSMIC
Ensembl Genes ENSG00000014919 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000016171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359514 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000016171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370483 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000014919 GTEx
HGNC ID HGNC:2263 ENTREZGENE
Human Proteome Map COX15 Human Proteome Map
InterPro COX15/CtaA_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HemeA_Synthase_type2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot
KEGG Report hsa:1355 UniProtKB/Swiss-Prot
NCBI Gene 1355 ENTREZGENE
OMIM 603646 OMIM
  615119 OMIM
PANTHER PTHR23289 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX15-CtaA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26779 PharmGKB
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot
UniProt B4DQM2 ENTREZGENE, UniProtKB/TrEMBL
  COX15_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K6I9 UniProtKB/Swiss-Prot
  O60556 UniProtKB/Swiss-Prot
  O75878 UniProtKB/Swiss-Prot
  Q5TD00 UniProtKB/Swiss-Prot
  Q5TD01 UniProtKB/Swiss-Prot
  Q7Z3Q3 UniProtKB/Swiss-Prot
  Q9NTN0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-07-10 COX15  cytochrome c oxidase assembly homolog COX15    COX15, cytochrome c oxidase assembly homolog  Symbol and/or name change 5135510 APPROVED
2016-07-05 COX15  COX15, cytochrome c oxidase assembly homolog    COX15 cytochrome c oxidase assembly homolog  Symbol and/or name change 5135510 APPROVED
2016-02-16 COX15  COX15 cytochrome c oxidase assembly homolog    cytochrome c oxidase assembly homolog 15 (yeast)  Symbol and/or name change 5135510 APPROVED
2012-10-23 COX15  cytochrome c oxidase assembly homolog 15 (yeast)    COX15 homolog, cytochrome c oxidase assembly protein (yeast)  Symbol and/or name change 5135510 APPROVED
2011-09-01 COX15  COX15 homolog, cytochrome c oxidase assembly protein (yeast)  COX15  COX15 homolog, cytochrome c oxidase assembly protein (yeast)  Symbol and/or name change 5135510 APPROVED