COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) - Rat Genome Database

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Gene: COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) Homo sapiens
Analyze
Symbol: COX10
Name: cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
RGD ID: 1321106
HGNC Page HGNC
Description: Enables farnesyltranstransferase activity. Involved in heme A biosynthetic process and respiratory chain complex IV assembly. Located in cytosol; mitochondrion; and nucleolus. Part of cytochrome complex. Implicated in cytochrome-c oxidase deficiency disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor; COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 10; cytochrome c oxidase assembly protein; cytochrome c oxidase subunit X; heme A: farnesyltransferase; heme O synthase; MC4DN3; protoheme IX farnesyltransferase, mitochondrial
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 Ensembl1714,069,490 - 14,231,736 (+)EnsemblGRCh38hg38GRCh38
GRCh381714,069,504 - 14,208,677 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371713,972,821 - 14,111,994 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361713,913,444 - 14,052,719 (+)NCBINCBI36hg18NCBI36
Build 341713,913,443 - 14,052,717NCBI
Celera1713,998,545 - 14,137,802 (+)NCBI
Cytogenetic Map17p12NCBI
HuRef1713,868,124 - 14,007,418 (+)NCBIHuRef
CHM1_11713,981,510 - 14,120,811 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8078902   PMID:8889548   PMID:9177788   PMID:9285799   PMID:9403059   PMID:9787083   PMID:10767350   PMID:11959398   PMID:12477932   PMID:12928484   PMID:14607829   PMID:15455402  
PMID:15489334   PMID:16344560   PMID:17192483   PMID:19826901   PMID:20049701   PMID:20498629   PMID:20877624   PMID:21873635   PMID:22832960   PMID:25766330   PMID:25798074   PMID:26425749  
PMID:28514442   PMID:30021884   PMID:33180568  


Genomics

Comparative Map Data
COX10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1714,069,490 - 14,231,736 (+)EnsemblGRCh38hg38GRCh38
GRCh381714,069,504 - 14,208,677 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371713,972,821 - 14,111,994 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361713,913,444 - 14,052,719 (+)NCBINCBI36hg18NCBI36
Build 341713,913,443 - 14,052,717NCBI
Celera1713,998,545 - 14,137,802 (+)NCBI
Cytogenetic Map17p12NCBI
HuRef1713,868,124 - 14,007,418 (+)NCBIHuRef
CHM1_11713,981,510 - 14,120,811 (+)NCBICHM1_1
Cox10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391163,853,453 - 63,970,298 (-)NCBIGRCm39mm39
GRCm39 Ensembl1163,853,453 - 63,970,294 (-)Ensembl
GRCm381163,962,627 - 64,079,472 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1163,962,627 - 64,079,468 (-)EnsemblGRCm38mm10GRCm38
MGSCv371163,776,129 - 63,892,974 (-)NCBIGRCm37mm9NCBIm37
MGSCv361163,780,063 - 63,895,609 (-)NCBImm8
Celera1170,900,073 - 71,017,265 (-)NCBICelera
Cytogenetic Map11B3NCBI
Cox10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21048,630,993 - 48,742,835 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1048,630,676 - 48,746,667 (-)Ensembl
Rnor_6.01050,439,778 - 50,563,920 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1050,439,782 - 50,574,539 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01050,207,540 - 50,331,232 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41050,191,370 - 50,230,838 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1047,863,873 - 47,975,130 (-)NCBICelera
Cytogenetic Map10q23NCBI
LOC102022268
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554673,292,018 - 3,415,778 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554673,294,200 - 3,415,778 (-)NCBIChiLan1.0ChiLan1.0
LOC100980340
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11742,089,989 - 42,274,872 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1742,091,452 - 42,274,762 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01737,443,319 - 37,582,436 (-)NCBIMhudiblu_PPA_v0panPan3
COX10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1537,853,495 - 37,982,228 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl537,852,875 - 37,982,243 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha538,001,945 - 38,128,093 (+)NCBI
ROS_Cfam_1.0537,962,402 - 38,090,211 (+)NCBI
UMICH_Zoey_3.1537,939,923 - 38,067,239 (+)NCBI
UNSW_CanFamBas_1.0537,883,236 - 38,009,345 (+)NCBI
UU_Cfam_GSD_1.0538,072,091 - 38,199,459 (+)NCBI
LOC101967907
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560256,813,655 - 56,935,692 (+)NCBI
SpeTri2.0NW_004936724783,591 - 905,625 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1258,011,831 - 58,117,700 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11258,011,831 - 58,110,575 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21260,937,041 - 60,944,770 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21261,048,730 - 61,076,748 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COX10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11613,410,654 - 13,550,922 (+)NCBI
ChlSab1.1 Ensembl1613,410,792 - 13,551,903 (+)Ensembl
Vero_WHO_p1.0NW_0236660597,683,104 - 7,823,932 (-)NCBI
LOC101726271
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248772,161,819 - 2,282,336 (+)NCBI

Position Markers
D17S922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371714,031,165 - 14,031,316UniSTSGRCh37
GRCh371714,031,149 - 14,031,334UniSTSGRCh37
Build 361713,971,874 - 13,972,059RGDNCBI36
Celera1714,056,980 - 14,057,163RGD
Celera1714,056,996 - 14,057,145UniSTS
Cytogenetic Map17p12UniSTS
HuRef1713,926,575 - 13,926,724UniSTS
HuRef1713,926,559 - 13,926,742UniSTS
Marshfield Genetic Map1735.55RGD
Genethon Genetic Map1736.4UniSTS
TNG Radiation Hybrid Map177762.0UniSTS
deCODE Assembly Map1740.47UniSTS
Stanford-G3 RH Map17841.0UniSTS
GeneMap99-GB4 RH Map1781.39UniSTS
Whitehead-RH Map17114.7UniSTS
Whitehead-YAC Contig Map17 UniSTS
GeneMap99-G3 RH Map17841.0UniSTS
WI-20772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371714,111,677 - 14,111,973UniSTSGRCh37
Build 361714,052,402 - 14,052,698RGDNCBI36
Celera1714,137,483 - 14,137,779RGD
Cytogenetic Map17p12UniSTS
HuRef1714,007,099 - 14,007,395UniSTS
GeneMap99-GB4 RH Map1770.82UniSTS
Whitehead-RH Map17123.2UniSTS
G54161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371715,492,758 - 15,493,068UniSTSGRCh37
GRCh371714,095,898 - 14,096,208UniSTSGRCh37
Build 361714,036,623 - 14,036,933RGDNCBI36
Celera1714,121,703 - 14,122,013RGD
Cytogenetic Map17p12UniSTS
HuRef1715,370,977 - 15,371,287UniSTS
HuRef1713,991,317 - 13,991,627UniSTS
RH122489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371715,481,477 - 15,481,806UniSTSGRCh37
GRCh371714,084,592 - 14,084,921UniSTSGRCh37
Build 361714,025,317 - 14,025,646RGDNCBI36
Celera1714,110,406 - 14,110,735RGD
Cytogenetic Map17p12UniSTS
HuRef1713,980,026 - 13,980,355UniSTS
TNG Radiation Hybrid Map178380.0UniSTS
L29898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371714,110,708 - 14,110,846UniSTSGRCh37
Build 361714,051,433 - 14,051,571RGDNCBI36
Celera1714,136,514 - 14,136,652RGD
Cytogenetic Map17p12UniSTS
HuRef1714,006,130 - 14,006,268UniSTS
COX10_8270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371714,111,208 - 14,111,991UniSTSGRCh37
Build 361714,051,933 - 14,052,716RGDNCBI36
Celera1714,137,014 - 14,137,797RGD
HuRef1714,006,630 - 14,007,413UniSTS
G31031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371714,111,837 - 14,111,978UniSTSGRCh37
Build 361714,052,562 - 14,052,703RGDNCBI36
Celera1714,137,643 - 14,137,784RGD
Cytogenetic Map17p12UniSTS
HuRef1714,007,259 - 14,007,400UniSTS
D17S922  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p12UniSTS
Marshfield Genetic Map1735.55UniSTS
Genethon Genetic Map1736.4UniSTS
deCODE Assembly Map1740.47UniSTS
Whitehead-RH Map17114.7UniSTS
Whitehead-YAC Contig Map17 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2502
Count of miRNA genes:846
Interacting mature miRNAs:958
Transcripts:ENST00000261643, ENST00000429152, ENST00000536205, ENST00000537334, ENST00000580561, ENST00000581931
Prediction methods:Miranda, Pita, 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 1744 946 349 112 852 75 2153 1806 278 241 906 646 52 321 1419 3
Low 695 2031 1377 512 1086 390 2203 390 3453 178 554 967 123 1 883 1369 3 2
Below cutoff 14 13 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000261643   ⟹   ENSP00000261643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1714,069,504 - 14,208,677 (+)Ensembl
RefSeq Acc Id: ENST00000429152   ⟹   ENSP00000397750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1714,069,496 - 14,077,322 (+)Ensembl
RefSeq Acc Id: ENST00000458492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1714,210,488 - 14,217,922 (+)Ensembl
RefSeq Acc Id: ENST00000580561   ⟹   ENSP00000462190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1714,069,604 - 14,207,585 (+)Ensembl
RefSeq Acc Id: ENST00000581931   ⟹   ENSP00000462512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1714,069,604 - 14,207,513 (+)Ensembl
RefSeq Acc Id: ENST00000664217   ⟹   ENSP00000499396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1714,069,490 - 14,231,736 (+)Ensembl
RefSeq Acc Id: ENST00000670279   ⟹   ENSP00000499450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1714,069,490 - 14,217,916 (+)Ensembl
RefSeq Acc Id: NM_001303   ⟹   NP_001294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381714,069,504 - 14,208,677 (+)NCBI
GRCh371713,972,719 - 14,111,996 (+)ENTREZGENE
Build 361713,913,444 - 14,052,719 (+)NCBI Archive
HuRef1713,868,124 - 14,007,418 (+)ENTREZGENE
CHM1_11713,981,510 - 14,120,811 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001294   ⟸   NM_001303
- UniProtKB: Q12887 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000462190   ⟸   ENST00000580561
RefSeq Acc Id: ENSP00000462512   ⟸   ENST00000581931
RefSeq Acc Id: ENSP00000499396   ⟸   ENST00000664217
RefSeq Acc Id: ENSP00000397750   ⟸   ENST00000429152
RefSeq Acc Id: ENSP00000261643   ⟸   ENST00000261643
RefSeq Acc Id: ENSP00000499450   ⟸   ENST00000670279

Promoters
RGD ID:6793889
Promoter ID:HG_KWN:25056
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001303
Position:
Human AssemblyChrPosition (strand)Source
Build 361713,913,324 - 13,913,824 (+)MPROMDB
RGD ID:7234053
Promoter ID:EPDNEW_H22772
Type:initiation region
Name:COX10_1
Description:COX10, heme A:farnesyltransferase cytochrome c oxidase assemblyfactor
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
GRCh381714,069,523 - 14,069,583EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele duplication Charcot-Marie-Tooth disease, type IA [RCV000735214] Chr17:14087933..15500645 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) single nucleotide variant Leigh syndrome [RCV000764102]|Leigh syndrome [RCV001127737]|Mitochondrial complex IV deficiency [RCV001127738]|not provided [RCV000521510] Chr17:14076868 [GRCh38]
Chr17:13980185 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.612C>A (p.Asn204Lys) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007956] Chr17:14102230 [GRCh38]
Chr17:14005547 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.587C>A (p.Thr196Lys) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007958] Chr17:14102205 [GRCh38]
Chr17:14005522 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007959] Chr17:14159926 [GRCh38]
Chr17:14063243 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007960]|Mitochondrial complex IV deficiency [RCV000995747] Chr17:14206888 [GRCh38]
Chr17:14110205 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1007A>G (p.Asp336Gly) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007961] Chr17:14206888 [GRCh38]
Chr17:14110205 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.2T>C (p.Met1Thr) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 3 [RCV000007962] Chr17:14069607 [GRCh38]
Chr17:13972924 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.3(COX10):c.696-13249C>T single nucleotide variant Lung cancer [RCV000100361] Chr17:14178740 [GRCh38]
Chr17:14082057 [GRCh37]
Chr17:17p12
uncertain significance
GRCh38/hg38 17p12(chr17:14208455-15538752)x3 copy number gain See cases [RCV000050791] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14208455-15538752)x1 copy number loss See cases [RCV000050794] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14126296-15659587)x3 copy number gain See cases [RCV000051843] Chr17:14126296..15659587 [GRCh38]
Chr17:14029613..15562901 [GRCh37]
Chr17:13970338..15503626 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14186983-15578926)x3 copy number gain See cases [RCV000051845] Chr17:14186983..15578926 [GRCh38]
Chr17:14090300..15482240 [GRCh37]
Chr17:14031025..15422965 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14186983-15563870)x3 copy number gain See cases [RCV000051848] Chr17:14186983..15563870 [GRCh38]
Chr17:14090300..15467184 [GRCh37]
Chr17:14031025..15407909 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 copy number gain See cases [RCV000052476] Chr17:10892259..17964282 [GRCh38]
Chr17:10795576..17867596 [GRCh37]
Chr17:10736301..17808321 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12(chr17:14208255-15538893)x3 copy number gain See cases [RCV000054325] Chr17:14208255..15538893 [GRCh38]
Chr17:14111572..15442207 [GRCh37]
Chr17:14052297..15382932 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14208255-15538893)x1 copy number loss See cases [RCV000054326] Chr17:14208255..15538893 [GRCh38]
Chr17:14111572..15442207 [GRCh37]
Chr17:14052297..15382932 [NCBI36]
Chr17:17p12
pathogenic
NM_001303.3(COX10):c.978C>T (p.Phe326=) single nucleotide variant Malignant melanoma [RCV000071346] Chr17:14206859 [GRCh38]
Chr17:14110176 [GRCh37]
Chr17:14050901 [NCBI36]
Chr17:17p12
not provided
NM_001303.4(COX10):c.699A>G (p.Pro233=) single nucleotide variant Leigh syndrome [RCV000388928]|Mitochondrial complex IV deficiency [RCV000294930]|not specified [RCV000124560] Chr17:14191992 [GRCh38]
Chr17:14095309 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.738G>A (p.Pro246=) single nucleotide variant not specified [RCV000124561] Chr17:14192031 [GRCh38]
Chr17:14095348 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.773T>A (p.Leu258His) single nucleotide variant not specified [RCV000202783] Chr17:14192066 [GRCh38]
Chr17:14095383 [GRCh37]
Chr17:17p12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001303.4(COX10):c.928+12G>A single nucleotide variant Leigh syndrome [RCV000337122]|Mitochondrial complex IV deficiency [RCV000300689]|not specified [RCV000124563] Chr17:14192233 [GRCh38]
Chr17:14095550 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.929-7C>T single nucleotide variant Leigh syndrome [RCV000265719]|Mitochondrial complex IV deficiency [RCV000361435]|not provided [RCV000676610]|not specified [RCV000179820] Chr17:14206803 [GRCh38]
Chr17:14110120 [GRCh37]
Chr17:17p12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001303.4(COX10):c.981C>T (p.Asn327=) single nucleotide variant Leigh syndrome [RCV000366250]|Mitochondrial complex IV deficiency [RCV000302186]|not provided [RCV000513362]|not specified [RCV000124565] Chr17:14206862 [GRCh38]
Chr17:14110179 [GRCh37]
Chr17:17p12
benign|likely benign|uncertain significance
NM_001303.4(COX10):c.1038G>A (p.Ser346=) single nucleotide variant Leigh syndrome [RCV000271444]|Mitochondrial complex IV deficiency [RCV000326474]|not provided [RCV001518584]|not specified [RCV000124566] Chr17:14206919 [GRCh38]
Chr17:14110236 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.1096G>T (p.Val366Leu) single nucleotide variant Leigh syndrome [RCV001127831]|Mitochondrial complex IV deficiency [RCV001127832]|none provided [RCV001282511]|not provided [RCV000961080]|not specified [RCV000124567] Chr17:14206977 [GRCh38]
Chr17:14110294 [GRCh37]
Chr17:17p12
benign|likely benign|uncertain significance
NM_001303.4(COX10):c.504G>A (p.Leu168=) single nucleotide variant Leigh syndrome [RCV000264198]|Mitochondrial complex IV deficiency [RCV000377462]|not provided [RCV000676608]|not specified [RCV000124568] Chr17:14102122 [GRCh38]
Chr17:14005439 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) single nucleotide variant Leigh syndrome [RCV000290887]|Mitochondrial complex IV deficiency [RCV000385025]|not provided [RCV000676604]|not specified [RCV000124569] Chr17:14074362 [GRCh38]
Chr17:13977679 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.33C>T (p.Arg11=) single nucleotide variant Leigh syndrome [RCV000379378]|Mitochondrial complex IV deficiency [RCV000315716]|not provided [RCV000676603]|not specified [RCV000124570] Chr17:14069638 [GRCh38]
Chr17:13972955 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) single nucleotide variant Leigh syndrome [RCV000311575]|Mitochondrial complex IV deficiency [RCV000401023]|not provided [RCV000676605]|not specified [RCV000124571] Chr17:14076741 [GRCh38]
Chr17:13980058 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) single nucleotide variant Leigh syndrome [RCV000298992]|Mitochondrial complex IV deficiency [RCV000353817]|not provided [RCV000676606]|not specified [RCV000124572] Chr17:14076847 [GRCh38]
Chr17:13980164 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.302C>T (p.Pro101Leu) single nucleotide variant Leigh syndrome [RCV001127736]|Mitochondrial complex IV deficiency [RCV001127735]|not provided [RCV000975987]|not specified [RCV000124573] Chr17:14076859 [GRCh38]
Chr17:13980176 [GRCh37]
Chr17:17p12
benign|likely benign|uncertain significance
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) single nucleotide variant Leigh syndrome [RCV000268376]|Mitochondrial complex IV deficiency [RCV000322790]|not provided [RCV000676607]|not specified [RCV000124574] Chr17:14077033 [GRCh38]
Chr17:13980350 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) single nucleotide variant Leigh syndrome [RCV001124728]|Mitochondrial complex IV deficiency [RCV001124729]|not provided [RCV000223992]|not specified [RCV000124575] Chr17:14159934 [GRCh38]
Chr17:14063251 [GRCh37]
Chr17:17p12
benign|likely benign|uncertain significance
NM_001303.4(COX10):c.1070C>T (p.Ala357Val) single nucleotide variant not provided [RCV001507375] Chr17:14206951 [GRCh38]
Chr17:14110268 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.679G>A (p.Val227Ile) single nucleotide variant Mitochondrial complex IV deficiency [RCV001331900] Chr17:14159931 [GRCh38]
Chr17:14063248 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.1064G>A (p.Arg355His) single nucleotide variant Leigh syndrome [RCV001331897] Chr17:14206945 [GRCh38]
Chr17:14110262 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) single nucleotide variant Leigh syndrome [RCV001331898] Chr17:14076951 [GRCh38]
Chr17:13980268 [GRCh37]
Chr17:17p12
uncertain significance
GRCh38/hg38 17p12(chr17:14208455-15588434)x1 copy number loss See cases [RCV000136830] Chr17:14208455..15588434 [GRCh38]
Chr17:14111772..15491748 [GRCh37]
Chr17:14052497..15432473 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538755)x3 copy number gain See cases [RCV000137634] Chr17:14208455..15538755 [GRCh38]
Chr17:14111772..15442069 [GRCh37]
Chr17:14052497..15382794 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538755)x1 copy number loss See cases [RCV000137635] Chr17:14208455..15538755 [GRCh38]
Chr17:14111772..15442069 [GRCh37]
Chr17:14052497..15382794 [NCBI36]
Chr17:17p12
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14208455-15579558)x1 copy number loss See cases [RCV000138441] Chr17:14208455..15579558 [GRCh38]
Chr17:14111772..15482872 [GRCh37]
Chr17:14052497..15423597 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14186983-15570276)x3 copy number gain See cases [RCV000141380] Chr17:14186983..15570276 [GRCh38]
Chr17:14090300..15473590 [GRCh37]
Chr17:14031025..15414315 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581044)x3 copy number gain See cases [RCV000140927] Chr17:14184616..15581044 [GRCh38]
Chr17:14087933..15484358 [GRCh37]
Chr17:14028658..15425083 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581544)x3 copy number gain See cases [RCV000141701] Chr17:14184616..15581544 [GRCh38]
Chr17:14087933..15484858 [GRCh37]
Chr17:14028658..15425583 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581544)x1 copy number loss See cases [RCV000141702] Chr17:14184616..15581544 [GRCh38]
Chr17:14087933..15484858 [GRCh37]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14184616-15588218)x1 copy number loss See cases [RCV000141736] Chr17:14184616..15588218 [GRCh38]
Chr17:14087933..15491532 [GRCh37]
Chr17:14028658..15432257 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14179737-15571773)x1 copy number loss See cases [RCV000142266] Chr17:14179737..15571773 [GRCh38]
Chr17:14083054..15475087 [GRCh37]
Chr17:14023779..15415812 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14179737-15664355)x3 copy number gain See cases [RCV000142324] Chr17:14179737..15664355 [GRCh38]
Chr17:14083054..15567669 [GRCh37]
Chr17:14023779..15508394 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p12(chr17:14208455-15579558)x3 copy number gain See cases [RCV000142839] Chr17:14208455..15579558 [GRCh38]
Chr17:14111772..15482872 [GRCh37]
Chr17:14052497..15423597 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14184470-15586786)x1 copy number loss See cases [RCV000143299] Chr17:14184470..15586786 [GRCh38]
Chr17:14087787..15490100 [GRCh37]
Chr17:14028512..15430825 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14184616-15597331)x3 copy number gain See cases [RCV000143303] Chr17:14184616..15597331 [GRCh38]
Chr17:14087933..15500645 [GRCh37]
Chr17:14028658..15441370 [NCBI36]
Chr17:17p12
pathogenic|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14208455-15538752)x3 copy number gain See cases [RCV000148118] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12
pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538752)x1 copy number loss See cases [RCV000148121] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12
pathogenic
Single allele complex Ductal breast carcinoma [RCV000207129] Chr17:9586165..16325968 [GRCh37]
Chr17:17p13.1-11.2
uncertain significance
NM_001303.4(COX10):c.1193G>A (p.Arg398His) single nucleotide variant not provided [RCV000224667] Chr17:14207074 [GRCh38]
Chr17:14110391 [GRCh37]
Chr17:17p12
benign
Single allele deletion Autism spectrum disorder [RCV000225574] Chr17:14101029..15482817 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14105874-15383769)x1 copy number loss Premature ovarian failure [RCV000225335] Chr17:14105874..15383769 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12(chr17:14110043-14111913)x1 copy number loss See cases [RCV000239921] Chr17:14110043..14111913 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14100118-15492444)x3 copy number gain See cases [RCV000239975] Chr17:14100118..15492444 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14110043-14111913)x3 copy number gain See cases [RCV000239956] Chr17:14110043..14111913 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1459del deletion Leigh syndrome [RCV000300582]|Mitochondrial complex IV deficiency [RCV000394845] Chr17:14208672 [GRCh38]
Chr17:14111989 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.3(COX10):c.-109G>A single nucleotide variant Leigh syndrome [RCV000367476]|Mitochondrial complex IV deficiency [RCV000301058]|not provided [RCV000830944] Chr17:14069497 [GRCh38]
Chr17:13972814 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.*831_*832CT[1] microsatellite Leigh syndrome [RCV000300799]|Mitochondrial complex IV deficiency [RCV000355513] Chr17:14208044..14208045 [GRCh38]
Chr17:14111361..14111362 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.*646C>A single nucleotide variant Leigh syndrome [RCV000379280]|Mitochondrial complex IV deficiency [RCV000282929] Chr17:14207859 [GRCh38]
Chr17:14111176 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.64T>A (p.Trp22Arg) single nucleotide variant Leigh syndrome [RCV000284888]|Mitochondrial complex IV deficiency [RCV000339864] Chr17:14074343 [GRCh38]
Chr17:13977660 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*322T>C single nucleotide variant Leigh syndrome [RCV000285265]|Mitochondrial complex IV deficiency [RCV000341057] Chr17:14207535 [GRCh38]
Chr17:14110852 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.624+4A>G single nucleotide variant Leigh syndrome [RCV000288666]|Mitochondrial complex IV deficiency [RCV000343670]|not provided [RCV000829183] Chr17:14102246 [GRCh38]
Chr17:14005563 [GRCh37]
Chr17:17p12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001303.4(COX10):c.*1101C>T single nucleotide variant Leigh syndrome [RCV000271535]|Mitochondrial complex IV deficiency [RCV000328872] Chr17:14208314 [GRCh38]
Chr17:14111631 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.-29C>A single nucleotide variant Leigh syndrome [RCV000273590]|Mitochondrial complex IV deficiency [RCV000319115] Chr17:14069577 [GRCh38]
Chr17:13972894 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.-63C>T single nucleotide variant Leigh syndrome [RCV000277116]|Mitochondrial complex IV deficiency [RCV000362420] Chr17:14069543 [GRCh38]
Chr17:13972860 [GRCh37]
Chr17:17p12
benign|likely benign|uncertain significance
NM_001303.4(COX10):c.*13G>A single nucleotide variant Leigh syndrome [RCV000277182]|Mitochondrial complex IV deficiency [RCV000381042] Chr17:14207226 [GRCh38]
Chr17:14110543 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*974C>A single nucleotide variant Leigh syndrome [RCV000316091]|Mitochondrial complex IV deficiency [RCV000260745] Chr17:14208187 [GRCh38]
Chr17:14111504 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.*564dup duplication Leigh syndrome [RCV000367377]|Mitochondrial complex IV deficiency [RCV000263806] Chr17:14207776..14207777 [GRCh38]
Chr17:14111093..14111094 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.781G>T (p.Ala261Ser) single nucleotide variant not provided [RCV000305071] Chr17:14192074 [GRCh38]
Chr17:14095391 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1078C>T single nucleotide variant Leigh syndrome [RCV000321981]|Mitochondrial complex IV deficiency [RCV000376624] Chr17:14208291 [GRCh38]
Chr17:14111608 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.*152T>A single nucleotide variant Leigh syndrome [RCV000279241]|Mitochondrial complex IV deficiency [RCV000373974] Chr17:14207365 [GRCh38]
Chr17:14110682 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*646C>G single nucleotide variant Leigh syndrome [RCV000347246]|Mitochondrial complex IV deficiency [RCV000395029] Chr17:14207859 [GRCh38]
Chr17:14111176 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001303.4(COX10):c.929-9_929-7dup duplication Leigh syndrome [RCV000399268]|Mitochondrial complex IV deficiency [RCV000297390]|not provided [RCV001518767] Chr17:14206798..14206799 [GRCh38]
Chr17:14110115..14110116 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.-24G>A single nucleotide variant Leigh syndrome [RCV000279297]|Mitochondrial complex IV deficiency [RCV000373740]|not provided [RCV000827262] Chr17:14069582 [GRCh38]
Chr17:13972899 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001303.4(COX10):c.*438G>C single nucleotide variant Leigh syndrome [RCV000307272]|Mitochondrial complex IV deficiency [RCV000371382] Chr17:14207651 [GRCh38]
Chr17:14110968 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.543G>A (p.Pro181=) single nucleotide variant Leigh syndrome [RCV000383020]|Mitochondrial complex IV deficiency [RCV000328617]|not provided [RCV001564175] Chr17:14102161 [GRCh38]
Chr17:14005478 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001303.4(COX10):c.*1367G>A single nucleotide variant Leigh syndrome [RCV000389123]|Mitochondrial complex IV deficiency [RCV000350985] Chr17:14208580 [GRCh38]
Chr17:14111897 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1324C>T single nucleotide variant Leigh syndrome [RCV000381119]|Mitochondrial complex IV deficiency [RCV000288971] Chr17:14208537 [GRCh38]
Chr17:14111854 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.*371A>G single nucleotide variant Leigh syndrome [RCV000389973]|Mitochondrial complex IV deficiency [RCV000310611] Chr17:14207584 [GRCh38]
Chr17:14110901 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.-40G>A single nucleotide variant Leigh syndrome [RCV000332179]|Mitochondrial complex IV deficiency [RCV000368067] Chr17:14069566 [GRCh38]
Chr17:13972883 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1385C>T single nucleotide variant Leigh syndrome [RCV000349607]|Mitochondrial complex IV deficiency [RCV000292528]|not provided [RCV001541829] Chr17:14208598 [GRCh38]
Chr17:14111915 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.*535C>A single nucleotide variant Leigh syndrome [RCV000276817]|Mitochondrial complex IV deficiency [RCV000331353] Chr17:14207748 [GRCh38]
Chr17:14111065 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*297G>A single nucleotide variant Leigh syndrome [RCV000334328]|Mitochondrial complex IV deficiency [RCV000396612] Chr17:14207510 [GRCh38]
Chr17:14110827 [GRCh37]
Chr17:17p12
benign|likely benign
NM_001303.4(COX10):c.*757T>C single nucleotide variant Leigh syndrome [RCV000313440]|Mitochondrial complex IV deficiency [RCV000390456] Chr17:14207970 [GRCh38]
Chr17:14111287 [GRCh37]
Chr17:17p12
benign
NM_001303.3(COX10):c.-112G>A single nucleotide variant Leigh syndrome [RCV000336039]|Mitochondrial complex IV deficiency [RCV000390210] Chr17:14069494 [GRCh38]
Chr17:13972811 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.192G>A (p.Leu64=) single nucleotide variant Leigh syndrome [RCV000357092]|Mitochondrial complex IV deficiency [RCV000262578] Chr17:14076749 [GRCh38]
Chr17:13980066 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.3(COX10):c.-170C>G single nucleotide variant Leigh syndrome [RCV000278677]|Mitochondrial complex IV deficiency [RCV000396008] Chr17:14069436 [GRCh38]
Chr17:13972753 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*628C>G single nucleotide variant Leigh syndrome [RCV000324664]|Mitochondrial complex IV deficiency [RCV000279032] Chr17:14207841 [GRCh38]
Chr17:14111158 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.173G>A (p.Arg58His) single nucleotide variant Leigh syndrome [RCV000315497]|Mitochondrial complex IV deficiency [RCV000351189] Chr17:14074452 [GRCh38]
Chr17:13977769 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.909C>T (p.Ala303=) single nucleotide variant Leigh syndrome [RCV000398956]|Mitochondrial complex IV deficiency [RCV000349796] Chr17:14192202 [GRCh38]
Chr17:14095519 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001303.4(COX10):c.*1076T>C single nucleotide variant Leigh syndrome [RCV000266831]|Mitochondrial complex IV deficiency [RCV000361388] Chr17:14208289 [GRCh38]
Chr17:14111606 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.*150_*152del deletion Leigh syndrome [RCV000319360]|Mitochondrial complex IV deficiency [RCV000292276] Chr17:14207352..14207354 [GRCh38]
Chr17:14110669..14110671 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.123G>A (p.Arg41=) single nucleotide variant Leigh syndrome [RCV000345876]|Mitochondrial complex IV deficiency [RCV000400516] Chr17:14074402 [GRCh38]
Chr17:13977719 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*151_*152del deletion Leigh syndrome [RCV000386652]|Mitochondrial complex IV deficiency [RCV000332249]|not provided [RCV001541165] Chr17:14207352..14207353 [GRCh38]
Chr17:14110669..14110670 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.*408G>A single nucleotide variant Leigh syndrome [RCV000365321]|Mitochondrial complex IV deficiency [RCV000398965] Chr17:14207621 [GRCh38]
Chr17:14110938 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*591_*592del deletion Leigh syndrome [RCV000318962]|Mitochondrial complex IV deficiency [RCV000373561] Chr17:14207804..14207805 [GRCh38]
Chr17:14111121..14111122 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*823C>T single nucleotide variant Leigh syndrome [RCV000368052]|Mitochondrial complex IV deficiency [RCV000402295] Chr17:14208036 [GRCh38]
Chr17:14111353 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.-90G>T single nucleotide variant Leigh syndrome [RCV000407367]|Mitochondrial complex IV deficiency [RCV000307762] Chr17:14069516 [GRCh38]
Chr17:13972833 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*739A>G single nucleotide variant Leigh syndrome [RCV000288864]|Mitochondrial complex IV deficiency [RCV000343596] Chr17:14207952 [GRCh38]
Chr17:14111269 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.307T>G (p.Ser103Ala) single nucleotide variant not provided [RCV000594379] Chr17:14076864 [GRCh38]
Chr17:13980181 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12(chr17:14100118-15492400)x3 copy number gain See cases [RCV000446834] Chr17:14100118..15492400 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14100118-15458649)x3 copy number gain See cases [RCV000446377] Chr17:14100118..15458649 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12(chr17:14100118-15455238)x1 copy number loss See cases [RCV000447495] Chr17:14100118..15455238 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.-35A>G single nucleotide variant not specified [RCV000430910] Chr17:14069571 [GRCh38]
Chr17:13972888 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) single nucleotide variant Leigh syndrome [RCV000764103]|Leigh syndrome [RCV001333919]|not provided [RCV000442977] Chr17:14206908 [GRCh38]
Chr17:14110225 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.1200C>T (p.Tyr400=) single nucleotide variant not provided [RCV000920912]|not specified [RCV000431503] Chr17:14207081 [GRCh38]
Chr17:14110398 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.1305C>G (p.Gly435=) single nucleotide variant not specified [RCV000442425] Chr17:14207186 [GRCh38]
Chr17:14110503 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.695+11G>A single nucleotide variant not specified [RCV000443360] Chr17:14159958 [GRCh38]
Chr17:14063275 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.425G>A (p.Arg142Gln) single nucleotide variant not specified [RCV000422327] Chr17:14076982 [GRCh38]
Chr17:13980299 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.15G>T (p.Pro5=) single nucleotide variant not specified [RCV000433044] Chr17:14069620 [GRCh38]
Chr17:13972937 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.48C>T (p.Cys16=) single nucleotide variant not specified [RCV000422846] Chr17:14074327 [GRCh38]
Chr17:13977644 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.93C>A (p.Asp31Glu) single nucleotide variant Leigh syndrome [RCV001125643]|Mitochondrial complex IV deficiency [RCV001125644]|not specified [RCV000433541] Chr17:14074372 [GRCh38]
Chr17:13977689 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001303.4(COX10):c.930C>T (p.Gly310=) single nucleotide variant not specified [RCV000444826] Chr17:14206811 [GRCh38]
Chr17:14110128 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12(chr17:14087933-15484859)x1 copy number loss See cases [RCV000448167] Chr17:14087933..15484859 [GRCh37]
Chr17:17p12
pathogenic
NC_000017.10:g.(?_14083471)_(15420108_?)del deletion Schizophrenia [RCV000416848] Chr17:14083471..15420108 [GRCh37]
Chr17:14024196..15360833 [NCBI36]
Chr17:17p12
likely pathogenic
NM_001303.4(COX10):c.929-10_929-7dup duplication not specified [RCV000480237] Chr17:14206798..14206799 [GRCh38]
Chr17:14110115..14110116 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12(chr17:14087933-15490100)x3 copy number gain See cases [RCV000512094] Chr17:14087933..15490100 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1225C>T (p.Arg409Trp) single nucleotide variant not provided [RCV000479216] Chr17:14207106 [GRCh38]
Chr17:14110423 [GRCh37]
Chr17:17p12
likely pathogenic
GRCh37/hg19 17p12(chr17:14087787-15483608)x1 copy number loss See cases [RCV000510301] Chr17:14087787..15483608 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14095639-15274712)x1 copy number loss See cases [RCV000510182] Chr17:14095639..15274712 [GRCh37]
Chr17:17p12
likely pathogenic
GRCh37/hg19 17p12(chr17:14098660-15501133)x3 copy number gain See cases [RCV000510183] Chr17:14098660..15501133 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14087787-15473312)x1 copy number loss See cases [RCV000510352] Chr17:14087787..15473312 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.445C>T (p.Gln149Ter) single nucleotide variant not provided [RCV000494123] Chr17:14077002 [GRCh38]
Chr17:13980319 [GRCh37]
Chr17:17p12
likely pathogenic
GRCh37/hg19 17p12(chr17:14098660-15500645)x1 copy number loss See cases [RCV000511687] Chr17:14098660..15500645 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p12(chr17:14087933-15437330)x3 copy number gain See cases [RCV000510747] Chr17:14087933..15437330 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) single nucleotide variant Leigh syndrome [RCV001122054]|Mitochondrial complex IV deficiency [RCV001122055]|not provided [RCV000514768]|not specified [RCV000603785] Chr17:14207172 [GRCh38]
Chr17:14110489 [GRCh37]
Chr17:17p12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001303.4(COX10):c.1071G>A (p.Ala357=) single nucleotide variant not specified [RCV000609242] Chr17:14206952 [GRCh38]
Chr17:14110269 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12(chr17:14098786-15495266)x1 copy number loss See cases [RCV000515567] Chr17:14098786..15495266 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14083054-15491533)x3 copy number gain See cases [RCV000512304] Chr17:14083054..15491533 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14083054-15491532)x3 copy number gain See cases [RCV000512527] Chr17:14083054..15491532 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14083054-15463054)x3 copy number gain See cases [RCV000512545] Chr17:14083054..15463054 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.906G>A (p.Ala302=) single nucleotide variant not provided [RCV000512948] Chr17:14192199 [GRCh38]
Chr17:14095516 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) single nucleotide variant Leigh syndrome [RCV000764104]|not provided [RCV000513659] Chr17:14206942 [GRCh38]
Chr17:14110259 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12(chr17:14087933-15491532)x3 copy number gain See cases [RCV000512594] Chr17:14087933..15491532 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) single nucleotide variant Mitochondrial complex IV deficiency [RCV000660403] Chr17:14206863 [GRCh38]
Chr17:14110180 [GRCh37]
Chr17:17p12
conflicting interpretations of pathogenicity|uncertain significance
NM_001303.4(COX10):c.561C>T (p.Pro187=) single nucleotide variant not provided [RCV000676609] Chr17:14102179 [GRCh38]
Chr17:14005496 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12(chr17:14083054-15479940)x3 copy number gain not provided [RCV000683891] Chr17:14083054..15479940 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14085652-15512120)x3 copy number gain not provided [RCV000683892] Chr17:14085652..15512120 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14087933-15484858)x1 copy number loss not provided [RCV000683893] Chr17:14087933..15484858 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14041216-14108096)x1 copy number loss not provided [RCV000683889] Chr17:14041216..14108096 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12(chr17:14076430-15491532)x3 copy number gain not provided [RCV000683890] Chr17:14076430..15491532 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NC_000017.11:g.(?_14178908)_(15518547_?)del deletion Schizophrenia [RCV000754199] Chr17:14178908..15518547 [GRCh38]
Chr17:17p12
likely pathogenic
NC_000017.11:g.(?_14183541)_(15573247_?)del deletion Autistic disorder of childhood onset [RCV000754200] Chr17:14183541..15573247 [GRCh38]
Chr17:17p12
likely pathogenic
GRCh37/hg19 17p12(chr17:14098277-14190782)x1 copy number loss not provided [RCV000739410] Chr17:14098277..14190782 [GRCh37]
Chr17:17p12
benign
GRCh37/hg19 17p12(chr17:14098277-15481162)x3 copy number gain not provided [RCV000739411] Chr17:14098277..15481162 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12(chr17:14101029-15449627)x1 copy number loss not provided [RCV000739412] Chr17:14101029..15449627 [GRCh37]
Chr17:17p12
likely pathogenic
GRCh37/hg19 17p12(chr17:14101029-15504740)x3 copy number gain not provided [RCV000739413] Chr17:14101029..15504740 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.282A>G (p.Ala94=) single nucleotide variant not provided [RCV000918663] Chr17:14076839 [GRCh38]
Chr17:13980156 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.380T>C (p.Ile127Thr) single nucleotide variant not provided [RCV000755984] Chr17:14076937 [GRCh38]
Chr17:13980254 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.661A>G (p.Thr221Ala) single nucleotide variant Mitochondrial complex IV deficiency [RCV000995746] Chr17:14159913 [GRCh38]
Chr17:14063230 [GRCh37]
Chr17:17p12
likely pathogenic
GRCh37/hg19 17p12(chr17:14104012-15422557) copy number gain Charcot-Marie-Tooth disease, type IA [RCV000767734] Chr17:14104012..15422557 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14111772-15442066)x3 copy number gain not provided [RCV000856654] Chr17:14111772..15442066 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14063251-15449627) copy number gain Charcot-Marie-Tooth disease, type IA [RCV000767732] Chr17:14063251..15449627 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14110451-15449097) copy number loss Hereditary liability to pressure palsies [RCV000767737] Chr17:14110451..15449097 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1260G>A (p.Pro420=) single nucleotide variant not provided [RCV000942914] Chr17:14207141 [GRCh38]
Chr17:14110458 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.260C>T (p.Thr87Ile) single nucleotide variant Leigh syndrome [RCV001127733]|Mitochondrial complex IV deficiency [RCV001127734]|not provided [RCV000899247] Chr17:14076817 [GRCh38]
Chr17:13980134 [GRCh37]
Chr17:17p12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p12(chr17:14101029-15449627) copy number loss Hereditary liability to pressure palsies [RCV000767733] Chr17:14101029..15449627 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14104012-15551814) copy number loss Hereditary liability to pressure palsies [RCV000767735] Chr17:14104012..15551814 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14105874-15611546) copy number gain Charcot-Marie-Tooth disease, type IA [RCV000767736] Chr17:14105874..15611546 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.44-178G>A single nucleotide variant not provided [RCV000843761] Chr17:14074145 [GRCh38]
Chr17:13977462 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.625-220G>A single nucleotide variant not provided [RCV000843765] Chr17:14159657 [GRCh38]
Chr17:14062974 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.625-227G>T single nucleotide variant not provided [RCV000844065] Chr17:14159650 [GRCh38]
Chr17:14062967 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.929-86G>A single nucleotide variant not provided [RCV000835510] Chr17:14206724 [GRCh38]
Chr17:14110041 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.624+147A>G single nucleotide variant not provided [RCV000835509] Chr17:14102389 [GRCh38]
Chr17:14005706 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.178-284dup duplication not provided [RCV000831773] Chr17:14076450..14076451 [GRCh38]
Chr17:13979767..13979768 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.695+130A>C single nucleotide variant not provided [RCV000835702] Chr17:14160077 [GRCh38]
Chr17:14063394 [GRCh37]
Chr17:17p12
benign
NC_000017.11:g.14069205C>T single nucleotide variant not provided [RCV000832384] Chr17:14069205 [GRCh38]
Chr17:13972522 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.624+167T>G single nucleotide variant not provided [RCV000832385] Chr17:14102409 [GRCh38]
Chr17:14005726 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.675G>T (p.Pro225=) single nucleotide variant Leigh syndrome [RCV001124726]|Mitochondrial complex IV deficiency [RCV001124727]|not provided [RCV000826286] Chr17:14159927 [GRCh38]
Chr17:14063244 [GRCh37]
Chr17:17p12
likely benign
NC_000017.11:g.14102246A>G single nucleotide variant not provided [RCV000829183] Chr17:14005563 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.500-4G>A single nucleotide variant not provided [RCV000827010] Chr17:14102114 [GRCh38]
Chr17:14005431 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.43+166T>C single nucleotide variant not provided [RCV000828551] Chr17:14069814 [GRCh38]
Chr17:13973131 [GRCh37]
Chr17:17p12
benign
NM_001303.4(COX10):c.1299C>T (p.Ser433=) single nucleotide variant not provided [RCV000826282] Chr17:14207180 [GRCh38]
Chr17:14110497 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.177+167C>T single nucleotide variant not provided [RCV000833424] Chr17:14074623 [GRCh38]
Chr17:13977940 [GRCh37]
Chr17:17p12
benign
GRCh37/hg19 17p12(chr17:13879079-14013128)x1 copy number loss not provided [RCV000848712] Chr17:13879079..14013128 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.763G>A (p.Val255Met) single nucleotide variant not provided [RCV000996498] Chr17:14192056 [GRCh38]
Chr17:14095373 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1002C>T single nucleotide variant Leigh syndrome [RCV001128011]|Mitochondrial complex IV deficiency [RCV001128010] Chr17:14208215 [GRCh38]
Chr17:14111532 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1079G>A single nucleotide variant Leigh syndrome [RCV001122251]|Mitochondrial complex IV deficiency [RCV001122250] Chr17:14208292 [GRCh38]
Chr17:14111609 [GRCh37]
Chr17:17p12
benign|uncertain significance
NM_001303.4(COX10):c.870G>A (p.Val290=) single nucleotide variant Leigh syndrome [RCV001125728]|Mitochondrial complex IV deficiency [RCV001125729] Chr17:14192163 [GRCh38]
Chr17:14095480 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.928+170G>A single nucleotide variant not provided [RCV001568285] Chr17:14192391 [GRCh38]
Chr17:14095708 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.1305C>T (p.Gly435=) single nucleotide variant Leigh syndrome [RCV001122056]|Mitochondrial complex IV deficiency [RCV001122057] Chr17:14207186 [GRCh38]
Chr17:14110503 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1148G>A single nucleotide variant Leigh syndrome [RCV001122252]|Mitochondrial complex IV deficiency [RCV001122253] Chr17:14208361 [GRCh38]
Chr17:14111678 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*485G>A single nucleotide variant Leigh syndrome [RCV001127922]|Mitochondrial complex IV deficiency [RCV001127921] Chr17:14207698 [GRCh38]
Chr17:14111015 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*720G>A single nucleotide variant Leigh syndrome [RCV001124932]|Mitochondrial complex IV deficiency [RCV001124931] Chr17:14207933 [GRCh38]
Chr17:14111250 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1383G>A single nucleotide variant Leigh syndrome [RCV001125029]|Mitochondrial complex IV deficiency [RCV001125028] Chr17:14208596 [GRCh38]
Chr17:14111913 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001303.4(COX10):c.736C>T (p.Pro246Ser) single nucleotide variant Leigh syndrome [RCV001125726]|Mitochondrial complex IV deficiency [RCV001125727] Chr17:14192029 [GRCh38]
Chr17:14095346 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.696-132C>A single nucleotide variant not provided [RCV001562136] Chr17:14191857 [GRCh38]
Chr17:14095174 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.44-62G>A single nucleotide variant not provided [RCV001562380] Chr17:14074261 [GRCh38]
Chr17:13977578 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.43+184G>T single nucleotide variant not provided [RCV001567854] Chr17:14069832 [GRCh38]
Chr17:13973149 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.500-130C>T single nucleotide variant not provided [RCV001555431] Chr17:14101988 [GRCh38]
Chr17:14005305 [GRCh37]
Chr17:17p12
likely benign
NM_001303.4(COX10):c.*144T>C single nucleotide variant Leigh syndrome [RCV001124824]|Mitochondrial complex IV deficiency [RCV001124823] Chr17:14207357 [GRCh38]
Chr17:14110674 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1032T>A single nucleotide variant Leigh syndrome [RCV001128013]|Mitochondrial complex IV deficiency [RCV001128012] Chr17:14208245 [GRCh38]
Chr17:14111562 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.44-3T>C single nucleotide variant Leigh syndrome [RCV001124634]|Mitochondrial complex IV deficiency [RCV001124633] Chr17:14074320 [GRCh38]
Chr17:13977637 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*859G>T single nucleotide variant Leigh syndrome [RCV001125907]|Mitochondrial complex IV deficiency [RCV001125908] Chr17:14208072 [GRCh38]
Chr17:14111389 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1 copy number loss See cases [RCV001195076] Chr17:10493837..15099023 [GRCh37]
Chr17:17p13.1-12
uncertain significance
GRCh37/hg19 17p12(chr17:14079630-15370444)x3 copy number gain See cases [RCV001195077] Chr17:14079630..15370444 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) single nucleotide variant Leigh syndrome [RCV001122052]|Mitochondrial complex IV deficiency [RCV001122053] Chr17:14207050 [GRCh38]
Chr17:14110367 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.-89G>C single nucleotide variant Leigh syndrome [RCV001127653]|Mitochondrial complex IV deficiency [RCV001127652] Chr17:14069517 [GRCh38]
Chr17:13972834 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.-89G>T single nucleotide variant Leigh syndrome [RCV001123557]|Mitochondrial complex IV deficiency [RCV001123556] Chr17:14069517 [GRCh38]
Chr17:13972834 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*628C>T single nucleotide variant Leigh syndrome [RCV001122160]|Mitochondrial complex IV deficiency [RCV001122159] Chr17:14207841 [GRCh38]
Chr17:14111158 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*653G>A single nucleotide variant Leigh syndrome [RCV001122161]|Mitochondrial complex IV deficiency [RCV001122162] Chr17:14207866 [GRCh38]
Chr17:14111183 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*1267A>G single nucleotide variant Leigh syndrome [RCV001122255]|Mitochondrial complex IV deficiency [RCV001122254] Chr17:14208480 [GRCh38]
Chr17:14111797 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001303.4(COX10):c.*539C>A single nucleotide variant Leigh syndrome [RCV001127923]|Mitochondrial complex IV deficiency [RCV001127924] Chr17:14207752 [GRCh38]
Chr17:14111069 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*894G>T single nucleotide variant Leigh syndrome [RCV001125909]|Mitochondrial complex IV deficiency [RCV001125910] Chr17:14208107 [GRCh38]
Chr17:14111424 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*904C>G single nucleotide variant Leigh syndrome [RCV001125911]|Mitochondrial complex IV deficiency [RCV001125912] Chr17:14208117 [GRCh38]
Chr17:14111434 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
GRCh37/hg19 17p12(chr17:13933395-14055324)x1 copy number loss not provided [RCV001006871] Chr17:13933395..14055324 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.*305A>G single nucleotide variant Leigh syndrome [RCV001124825]|Mitochondrial complex IV deficiency [RCV001124826] Chr17:14207518 [GRCh38]
Chr17:14110835 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12(chr17:14111754-15442178)x1 copy number loss See cases [RCV001263043] Chr17:14111754..15442178 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) single nucleotide variant Leigh syndrome [RCV001333920] Chr17:14207067 [GRCh38]
Chr17:14110384 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.637C>T (p.Pro213Ser) single nucleotide variant Mitochondrial complex IV deficiency [RCV001331899] Chr17:14159889 [GRCh38]
Chr17:14063206 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del) microsatellite not provided [RCV001311874] Chr17:14192016..14192018 [GRCh38]
Chr17:14095333..14095335 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12(chr17:14100118-15455297) copy number gain Scoliosis [RCV001352656] Chr17:14100118..15455297 [GRCh37]
Chr17:17p12
pathogenic
GRCh37/hg19 17p12(chr17:14098196-15442500)x3 copy number gain not provided [RCV001537892] Chr17:14098196..15442500 [GRCh37]
Chr17:17p12
pathogenic
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys) single nucleotide variant Leigh syndrome [RCV001333921] Chr17:14207073 [GRCh38]
Chr17:14110390 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.338C>G (p.Pro113Arg) single nucleotide variant not provided [RCV001507373] Chr17:14076895 [GRCh38]
Chr17:13980212 [GRCh37]
Chr17:17p12
uncertain significance
NM_001303.4(COX10):c.688C>T (p.Gln230Ter) single nucleotide variant not provided [RCV001507374] Chr17:14159940 [GRCh38]
Chr17:14063257 [GRCh37]
Chr17:17p12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2260 AgrOrtholog
COSMIC COX10 COSMIC
Ensembl Genes ENSG00000006695 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261643 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397750 UniProtKB/TrEMBL
  ENSP00000462190 UniProtKB/TrEMBL
  ENSP00000462512 UniProtKB/TrEMBL
  ENSP00000499396 UniProtKB/Swiss-Prot
  ENSP00000499450 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261643 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000429152 UniProtKB/TrEMBL
  ENST00000580561 UniProtKB/TrEMBL
  ENST00000581931 UniProtKB/TrEMBL
  ENST00000664217 UniProtKB/Swiss-Prot
  ENST00000670279 UniProtKB/TrEMBL
GTEx ENSG00000006695 GTEx
HGNC ID HGNC:2260 ENTREZGENE
Human Proteome Map COX10 Human Proteome Map
InterPro Protohaem_IX_farnesylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protohaem_IX_farnesylTrfase_mt UniProtKB/Swiss-Prot
  UbiA_prenyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UbiA_prenylTrfase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1352 UniProtKB/Swiss-Prot
NCBI Gene 1352 ENTREZGENE
OMIM 602125 OMIM
  619046 OMIM
PANTHER PTHR43448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UbiA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26776 PharmGKB
PIRSF COX10 UniProtKB/Swiss-Prot
PROSITE UBIA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs cyoE_ctaB UniProtKB/Swiss-Prot
UniProt A0A590UJJ5_HUMAN UniProtKB/TrEMBL
  COX10_HUMAN UniProtKB/Swiss-Prot
  H7C101_HUMAN UniProtKB/TrEMBL
  J3KRW4_HUMAN UniProtKB/TrEMBL
  J3KSJ3_HUMAN UniProtKB/TrEMBL
  Q12887 ENTREZGENE
UniProt Secondary B2R6U5 UniProtKB/Swiss-Prot
  B4DJ50 UniProtKB/Swiss-Prot
  O15334 UniProtKB/Swiss-Prot
  Q969F7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-07-10 COX10  cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10    COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor  Symbol and/or name change 5135510 APPROVED
2016-07-05 COX10  COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor    COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor  Symbol and/or name change 5135510 APPROVED
2014-11-26 COX10  COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor    cytochrome c oxidase assembly homolog 10 (yeast)  Symbol and/or name change 5135510 APPROVED
2012-10-23 COX10  cytochrome c oxidase assembly homolog 10 (yeast)    COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)  Symbol and/or name change 5135510 APPROVED
2011-08-17 COX10  COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)  COX10  COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)  Symbol and/or name change 5135510 APPROVED