NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2) - Rat Genome Database

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Gene: NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2) Homo sapiens
Analyze
Symbol: NDUFV2
Name: NADH:ubiquinone oxidoreductase core subunit V2
RGD ID: 734286
HGNC Page HGNC:7717
Description: Enables NADH dehydrogenase (ubiquinone) activity. Involved in cardiac muscle tissue development; mitochondrial electron transport, NADH to ubiquinone; and nervous system development. Located in mitochondrial inner membrane. Part of mitochondrial respiratory chain complex I. Implicated in Parkinson's disease and nuclear type mitochondrial complex I deficiency 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 24-kda subunit of mitochondrial nadh dehydrogenase; CI-24k; complex I 24kDa subunit; complex I, mitochondrial respitory chain, 24 kD subunit; MC1DN7; NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa; NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial; NADH-ubiquinone oxidoreductase 24 kDa subunit; NADH-ubiquinone oxidoreductase flavoprotein 2; nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NDUFV2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,102,699 - 9,134,341 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,102,630 - 9,134,345 (+)EnsemblGRCh38hg38GRCh38
GRCh37189,102,697 - 9,134,339 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,092,725 - 9,124,336 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,092,724 - 9,124,336NCBI
Celera188,986,907 - 9,018,629 (+)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,066,364 - 9,098,086 (+)NCBIHuRef
CHM1_1189,102,807 - 9,134,528 (+)NCBICHM1_1
T2T-CHM13v2.0189,266,137 - 9,297,787 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
astaxanthin  (ISO)
astemizole  (ISO)
azoxystrobin  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
captan  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clozapine  (ISO)
cocaine  (ISO)
cypermethrin  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
isoniazide  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (EXP)
methamphetamine  (ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
morphine  (ISO)
N-nitrosomorpholine  (ISO)
ochratoxin A  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctanoic acid  (ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
quetiapine fumarate  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sotorasib  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
toluene  (ISO)
trametinib  (EXP)
Tributyltin oxide  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease. Hattori N, etal., Genomics. 1998 Apr 1;49(1):52-8.
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2500970   PMID:7488192   PMID:7607668   PMID:9763677   PMID:9878551   PMID:12391372   PMID:12477932   PMID:12611891   PMID:12754703   PMID:12815743   PMID:15450783   PMID:15489334  
PMID:16169070   PMID:16508936   PMID:16712791   PMID:16784756   PMID:17601350   PMID:17786189   PMID:18199248   PMID:18977241   PMID:19034380   PMID:19064571   PMID:19135101   PMID:19165527  
PMID:19194776   PMID:19328558   PMID:19343046   PMID:19738201   PMID:19913121   PMID:20551160   PMID:20628086   PMID:20877624   PMID:20971673   PMID:20978456   PMID:21190551   PMID:21548921  
PMID:21873635   PMID:22939629   PMID:24344204   PMID:25437307   PMID:25544563   PMID:25609649   PMID:26008862   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26544616   PMID:26638075  
PMID:27499296   PMID:28380382   PMID:28514442   PMID:28844695   PMID:29128334   PMID:29395067   PMID:29568061   PMID:29987050   PMID:30030361   PMID:30531937   PMID:31056398   PMID:31073040  
PMID:31091453   PMID:31182584   PMID:31527615   PMID:31536960   PMID:31540324   PMID:31586073   PMID:31617661   PMID:31871319   PMID:32296183   PMID:32457219   PMID:32628020   PMID:32814053  
PMID:32877691   PMID:33660365   PMID:33811136   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34124242   PMID:34405929   PMID:34697471   PMID:34709727   PMID:35271311   PMID:35831314  
PMID:35944360   PMID:36215168   PMID:36309697   PMID:36373674   PMID:36490346   PMID:37616343  


Genomics

Comparative Map Data
NDUFV2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,102,699 - 9,134,341 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,102,630 - 9,134,345 (+)EnsemblGRCh38hg38GRCh38
GRCh37189,102,697 - 9,134,339 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,092,725 - 9,124,336 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,092,724 - 9,124,336NCBI
Celera188,986,907 - 9,018,629 (+)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,066,364 - 9,098,086 (+)NCBIHuRef
CHM1_1189,102,807 - 9,134,528 (+)NCBICHM1_1
T2T-CHM13v2.0189,266,137 - 9,297,787 (+)NCBIT2T-CHM13v2.0
Ndufv2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391766,385,790 - 66,408,554 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1766,385,633 - 66,408,554 (-)EnsemblGRCm39 Ensembl
GRCm381766,078,795 - 66,101,559 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1766,078,638 - 66,101,559 (-)EnsemblGRCm38mm10GRCm38
MGSCv371766,428,135 - 66,450,831 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361765,978,338 - 66,002,167 (-)NCBIMGSCv36mm8
Celera1770,387,225 - 70,409,835 (-)NCBICelera
Cytogenetic Map17E1.1NCBI
cM Map1735.26NCBI
Ndufv2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89113,137,305 - 113,157,571 (-)NCBIGRCr8
mRatBN7.29105,690,454 - 105,710,669 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9105,690,455 - 105,710,713 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9114,099,020 - 114,119,231 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09119,209,076 - 119,229,296 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09117,564,871 - 117,585,084 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09113,875,718 - 113,900,169 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9113,875,703 - 113,900,190 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09113,404,126 - 113,424,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49104,852,714 - 104,873,325 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19105,062,194 - 105,082,805 (-)NCBI
Celera9103,064,861 - 103,085,059 (-)NCBICelera
Cytogenetic Map9q37NCBI
Ndufv2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554022,800,447 - 2,818,375 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554022,802,366 - 2,818,049 (-)NCBIChiLan1.0ChiLan1.0
NDUFV2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21729,318,648 - 29,351,159 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11815,011,243 - 15,043,164 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0185,154,158 - 5,186,088 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1187,433,167 - 7,464,884 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl187,433,167 - 7,464,884 (-)Ensemblpanpan1.1panPan2
NDUFV2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1775,150,293 - 75,184,084 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl775,150,415 - 75,184,067 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha774,541,124 - 74,574,899 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0775,201,712 - 75,235,497 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl775,201,792 - 75,237,756 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1774,901,711 - 74,935,470 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0774,922,508 - 74,956,238 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0775,227,706 - 75,261,510 (+)NCBIUU_Cfam_GSD_1.0
Ndufv2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494472,226,667 - 72,256,804 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366702,742,553 - 2,772,697 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366702,742,553 - 2,772,697 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFV2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl698,815,885 - 98,852,524 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1698,819,156 - 98,852,561 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2692,155,773 - 92,189,212 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFV2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11868,018,120 - 68,052,883 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1868,018,143 - 68,053,634 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605042,967,720 - 43,002,538 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufv2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477017,925,250 - 17,950,754 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFV2
98 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NDUFV2, 4-BP DEL, NT5 deletion Mitochondrial complex I deficiency [RCV000009622] Chr18:18p11.31-p11.2 pathogenic
NM_021074.5(NDUFV2):c.300+299G>T single nucleotide variant not provided [RCV001545189] Chr18:9119889 [GRCh38]
Chr18:9119887 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV001000212]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000312272]|Parkinson disease, mitochondrial [RCV000009621]|not provided [RCV000676827]|not specified [RCV000117718] Chr18:9117869 [GRCh38]
Chr18:9117867 [GRCh37]
Chr18:18p11.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21		 pathogenic
GRCh38/hg38 18p11.23-11.22(chr18:7542605-9320894)x3 copy number gain See cases [RCV000052538] Chr18:7542605..9320894 [GRCh38]
Chr18:7542603..9320892 [GRCh37]
Chr18:7532603..9310892 [NCBI36]
Chr18:18p11.23-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1 copy number loss See cases [RCV000053456] Chr18:112259..9135777 [GRCh38]
Chr18:112259..9135775 [GRCh37]
Chr18:102259..9125775 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1 copy number loss See cases [RCV000053828] Chr18:7154668..10068356 [GRCh38]
Chr18:7154667..10068353 [GRCh37]
Chr18:7144667..10058353 [NCBI36]
Chr18:18p11.31-11.22		 pathogenic
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV000999964]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000366995]|not provided [RCV000676828]|not specified [RCV000117717] Chr18:9119491 [GRCh38]
Chr18:9119489 [GRCh37]
Chr18:18p11.22		 benign|likely benign
NM_021074.5(NDUFV2):c.118G>A (p.Val40Met) single nucleotide variant NDUFV2-related condition [RCV003952664]|not provided [RCV000966252]|not specified [RCV000127171] Chr18:9117901 [GRCh38]
Chr18:9117899 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.183+19T>A single nucleotide variant not provided [RCV002055711]|not specified [RCV000127172] Chr18:9119407 [GRCh38]
Chr18:9119405 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.580-12T>A single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000323330]|not provided [RCV001516535]|not specified [RCV000127173] Chr18:9126819 [GRCh38]
Chr18:9126817 [GRCh37]
Chr18:18p11.22		 benign|likely benign|uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.434_435del (p.Asn144_Ser145insTer) microsatellite not provided [RCV000514258] Chr18:9122644..9122645 [GRCh38]
Chr18:9122642..9122643 [GRCh37]
Chr18:18p11.22		 likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 copy number gain See cases [RCV000136590] Chr18:2425507..11904118 [GRCh38]
Chr18:2425506..11904117 [GRCh37]
Chr18:2415506..11894117 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 copy number loss See cases [RCV000137503] Chr18:7290175..13049470 [GRCh38]
Chr18:7290173..13049469 [GRCh37]
Chr18:7280173..13039469 [NCBI36]
Chr18:18p11.23-11.21		 likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.22(chr18:9026805-9592203)x3 copy number gain See cases [RCV000139023] Chr18:9026805..9592203 [GRCh38]
Chr18:9026803..9592201 [GRCh37]
Chr18:9016803..9582201 [NCBI36]
Chr18:18p11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3 copy number gain See cases [RCV000142491] Chr18:6913068..9146867 [GRCh38]
Chr18:6913067..9146865 [GRCh37]
Chr18:6903067..9136865 [NCBI36]
Chr18:18p11.31-11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1 copy number loss See cases [RCV000142225] Chr18:958974..11954935 [GRCh38]
Chr18:958975..11954934 [GRCh37]
Chr18:948975..11944934 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_021074.5(NDUFV2):c.515T>C (p.Ile172Thr) single nucleotide variant not provided [RCV002054334]|not specified [RCV000196624] Chr18:9124919 [GRCh38]
Chr18:9124917 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.553A>G (p.Met185Val) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV003147398]|not provided [RCV000200485] Chr18:9124957 [GRCh38]
Chr18:9124955 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.569A>G (p.Asp190Gly) single nucleotide variant not provided [RCV000198608] Chr18:9124973 [GRCh38]
Chr18:9124971 [GRCh37]
Chr18:18p11.22		 likely pathogenic
NM_021074.5(NDUFV2):c.301-3del deletion Mitochondrial complex 1 deficiency, nuclear type 7 [RCV003758722]|not provided [RCV000882107]|not specified [RCV000199535] Chr18:9122507 [GRCh38]
Chr18:9122505 [GRCh37]
Chr18:18p11.22		 benign|no classifications from unflagged records
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.116T>G (p.Phe39Cys) single nucleotide variant not provided [RCV000757551] Chr18:9117899 [GRCh38]
Chr18:9117897 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.580-20A>G single nucleotide variant NDUFV2-related condition [RCV003917960]|not provided [RCV002531662]|not specified [RCV000604842] Chr18:9126811 [GRCh38]
Chr18:9126809 [GRCh37]
Chr18:18p11.22		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
NM_021074.5(NDUFV2):c.-39G>T single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000306336] Chr18:9102705 [GRCh38]
Chr18:9102703 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.-30G>T single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000370310]|not provided [RCV001672548] Chr18:9102714 [GRCh38]
Chr18:9102712 [GRCh37]
Chr18:18p11.22		 benign|uncertain significance
NM_021074.5(NDUFV2):c.428G>A (p.Arg143Gln) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV003133208]|not provided [RCV000283536] Chr18:9122640 [GRCh38]
Chr18:9122638 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.120+5_120+8del microsatellite Mitochondrial complex 1 deficiency, nuclear type 7 [RCV000009622]|not provided [RCV000376089] Chr18:9117904..9117907 [GRCh38]
Chr18:9117902..9117905 [GRCh37]
Chr18:18p11.22		 pathogenic
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000261114]|not provided [RCV000911516] Chr18:9124950 [GRCh38]
Chr18:9124948 [GRCh37]
Chr18:18p11.22		 benign|likely benign|uncertain significance
NM_021074.5(NDUFV2):c.301-10A>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000262462] Chr18:9122503 [GRCh38]
Chr18:9122501 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.4(NDUFV2):c.-94A>T single nucleotide variant Mitochondrial complex I deficiency [RCV000345979] Chr18:9102650 [GRCh38]
Chr18:9102648 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.4(NDUFV2):c.-83C>T single nucleotide variant Mitochondrial complex I deficiency [RCV000400893] Chr18:9102661 [GRCh38]
Chr18:9102659 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV001329208]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000401738]|not provided [RCV001545608] Chr18:9102760 [GRCh38]
Chr18:9102758 [GRCh37]
Chr18:18p11.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000353703]|not provided [RCV000903810]|not specified [RCV000614024] Chr18:9124914 [GRCh38]
Chr18:9124912 [GRCh37]
Chr18:18p11.22		 likely benign|uncertain significance
NM_021074.4(NDUFV2):c.-98G>T single nucleotide variant Mitochondrial complex I deficiency [RCV000283813] Chr18:9102646 [GRCh38]
Chr18:9102644 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000319919] Chr18:9122627 [GRCh38]
Chr18:9122625 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.4(NDUFV2):c.*77C>G single nucleotide variant Mitochondrial complex I deficiency [RCV000388894]|not provided [RCV001527846] Chr18:9134356 [GRCh38]
Chr18:9134354 [GRCh37]
Chr18:18p11.22		 benign|likely benign
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_021074.5(NDUFV2):c.626A>G (p.Lys209Arg) single nucleotide variant not provided [RCV000443283] Chr18:9126877 [GRCh38]
Chr18:9126875 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_021074.5(NDUFV2):c.-13A>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001123060]|not provided [RCV001720062] Chr18:9102731 [GRCh38]
Chr18:9102729 [GRCh37]
Chr18:18p11.22		 likely benign|uncertain significance
NM_021074.5(NDUFV2):c.192G>A (p.Glu64=) single nucleotide variant not provided [RCV001721472] Chr18:9119482 [GRCh38]
Chr18:9119480 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.324T>A (p.Pro108=) single nucleotide variant not specified [RCV000429145] Chr18:9122536 [GRCh38]
Chr18:9122534 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.-5C>A single nucleotide variant not specified [RCV000433160] Chr18:9102739 [GRCh38]
Chr18:9102737 [GRCh37]
Chr18:18p11.22		 benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3 copy number gain See cases [RCV000511962] Chr18:2737126..9660466 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.23-11.22(chr18:7486105-9557565)x3 copy number gain not provided [RCV000684029] Chr18:7486105..9557565 [GRCh37]
Chr18:18p11.23-11.22		 uncertain significance
GRCh37/hg19 18p11.22(chr18:9068858-9134263)x3 copy number gain not provided [RCV000739748] Chr18:9068858..9134263 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) insertion Mitochondrial complex 1 deficiency, nuclear type 7 [RCV000754626]|not provided [RCV002533771] Chr18:9134198..9134199 [GRCh38]
Chr18:9134196..9134197 [GRCh37]
Chr18:18p11.22		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000018.10:g.9102331C>A single nucleotide variant not provided [RCV001679462] Chr18:9102331 [GRCh38]
Chr18:9102329 [GRCh37]
Chr18:18p11.22		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.120+1G>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000779248] Chr18:9117904 [GRCh38]
Chr18:9117902 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter) duplication Mitochondrial complex I deficiency, nuclear type 1 [RCV000779249] Chr18:9122646..9122647 [GRCh38]
Chr18:9122644..9122645 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.579+308ATC[4] microsatellite not provided [RCV000832490] Chr18:9125291..9125293 [GRCh38]
Chr18:9125289..9125291 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.121-168T>C single nucleotide variant not provided [RCV000837643] Chr18:9119158 [GRCh38]
Chr18:9119156 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.301-25A>G single nucleotide variant not provided [RCV000835484] Chr18:9122488 [GRCh38]
Chr18:9122486 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.121-289T>G single nucleotide variant not provided [RCV000828595] Chr18:9119037 [GRCh38]
Chr18:9119035 [GRCh37]
Chr18:18p11.22		 benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.55-274C>T single nucleotide variant not provided [RCV000828594] Chr18:9117564 [GRCh38]
Chr18:9117562 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.579+130T>G single nucleotide variant not provided [RCV000835310] Chr18:9125113 [GRCh38]
Chr18:9125111 [GRCh37]
Chr18:18p11.22		 likely benign
GRCh37/hg19 18p11.23-11.22(chr18:7188753-9408889)x1 copy number loss not provided [RCV000848842] Chr18:7188753..9408889 [GRCh37]
Chr18:18p11.23-11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.*51A>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001126799] Chr18:9134330 [GRCh38]
Chr18:9134328 [GRCh37]
Chr18:18p11.22		 uncertain significance
NC_000018.9:g.(?_9102742)_(12725530_?)dup duplication Dystonic disorder [RCV003105519] Chr18:9102742..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
NC_000018.10:g.9134440C>G single nucleotide variant not provided [RCV001715698] Chr18:9134440 [GRCh38]
Chr18:9134438 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.470-60_470-59del deletion not provided [RCV001534433] Chr18:9124802..9124803 [GRCh38]
Chr18:9124800..9124801 [GRCh37]
Chr18:18p11.22		 likely benign
NC_000018.10:g.9134515C>T single nucleotide variant not provided [RCV001556299] Chr18:9134515 [GRCh38]
Chr18:9134513 [GRCh37]
Chr18:18p11.22		 likely benign
NC_000018.10:g.9134359C>T single nucleotide variant not provided [RCV001652044] Chr18:9134359 [GRCh38]
Chr18:9134357 [GRCh37]
Chr18:18p11.22		 benign
NC_000018.10:g.9102457G>A single nucleotide variant not provided [RCV001556910] Chr18:9102457 [GRCh38]
Chr18:9102455 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.8T>C (p.Phe3Ser) single nucleotide variant Inborn genetic diseases [RCV002573242]|not provided [RCV001577977] Chr18:9102751 [GRCh38]
Chr18:9102749 [GRCh37]
Chr18:18p11.22		 uncertain significance
NC_000018.10:g.9102564G>A single nucleotide variant not provided [RCV001719502] Chr18:9102564 [GRCh38]
Chr18:9102562 [GRCh37]
Chr18:18p11.22		 benign
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001124129] Chr18:9122654 [GRCh38]
Chr18:9122652 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.121-64T>C single nucleotide variant not provided [RCV001557096] Chr18:9119262 [GRCh38]
Chr18:9119260 [GRCh37]
Chr18:18p11.22		 likely benign
NC_000018.10:g.9134346T>C single nucleotide variant not provided [RCV001551571] Chr18:9134346 [GRCh38]
Chr18:9134344 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.62_63del (p.His21fs) deletion not provided [RCV001557202] Chr18:9117845..9117846 [GRCh38]
Chr18:9117843..9117844 [GRCh37]
Chr18:18p11.22		 pathogenic|likely pathogenic
NM_021074.5(NDUFV2):c.469+288_469+304del deletion not provided [RCV001558247] Chr18:9122956..9122972 [GRCh38]
Chr18:9122954..9122970 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.657-239del deletion not provided [RCV001553181] Chr18:9133946 [GRCh38]
Chr18:9133944 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.54+217G>A single nucleotide variant not provided [RCV001594352] Chr18:9103014 [GRCh38]
Chr18:9103012 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.580G>A (p.Glu194Lys) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV001537795] Chr18:9126831 [GRCh38]
Chr18:9126829 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.54+252AT[6] microsatellite not provided [RCV001677641] Chr18:9103049..9103050 [GRCh38]
Chr18:9103047..9103048 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.469+12A>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001124130]|not provided [RCV002556688] Chr18:9122693 [GRCh38]
Chr18:9122691 [GRCh37]
Chr18:18p11.22		 likely benign|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.*57C>T single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001126800] Chr18:9134336 [GRCh38]
Chr18:9134334 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.470-59del deletion not provided [RCV001611249] Chr18:9124802 [GRCh38]
Chr18:9124800 [GRCh37]
Chr18:18p11.22		 benign
NC_000018.10:g.9102511T>C single nucleotide variant not provided [RCV001612272] Chr18:9102511 [GRCh38]
Chr18:9102509 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.580-252C>A single nucleotide variant not provided [RCV001589980] Chr18:9126579 [GRCh38]
Chr18:9126577 [GRCh37]
Chr18:18p11.22		 likely benign
GRCh37/hg19 18p11.23-11.22(chr18:8165369-9557565)x3 copy number gain not provided [RCV001006941] Chr18:8165369..9557565 [GRCh37]
Chr18:18p11.23-11.22		 uncertain significance
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001123061]|not provided [RCV002070012] Chr18:9102749 [GRCh38]
Chr18:9102747 [GRCh37]
Chr18:18p11.22		 likely benign|uncertain significance
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001126798] Chr18:9134207 [GRCh38]
Chr18:9134205 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1 copy number loss not provided [RCV001006944] Chr18:971295..11250447 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.680C>T (p.Pro227Leu) single nucleotide variant Inborn genetic diseases [RCV001266122]|not provided [RCV003235524] Chr18:9134209 [GRCh38]
Chr18:9134207 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 copy number loss not provided [RCV001258695] Chr18:7598173..15422644 [GRCh37]
Chr18:18p11.23-11.1		 pathogenic
NM_021074.5(NDUFV2):c.427C>T (p.Arg143Ter) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV001537794] Chr18:9122639 [GRCh38]
Chr18:9122637 [GRCh37]
Chr18:18p11.22		 pathogenic|uncertain significance
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001329833] Chr18:9102772 [GRCh38]
Chr18:9102770 [GRCh37]
Chr18:18p11.22		 uncertain significance
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.470-129G>T single nucleotide variant not provided [RCV001536894] Chr18:9124745 [GRCh38]
Chr18:9124743 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.319G>A (p.Val107Ile) single nucleotide variant Inborn genetic diseases [RCV002538799]|not provided [RCV001767370] Chr18:9122531 [GRCh38]
Chr18:9122529 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.548C>T (p.Ala183Val) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV001806295] Chr18:9124952 [GRCh38]
Chr18:9124950 [GRCh37]
Chr18:18p11.22		 uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_021074.5(NDUFV2):c.322C>A (p.Pro108Thr) single nucleotide variant not provided [RCV001779721] Chr18:9122534 [GRCh38]
Chr18:9122532 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.51C>G (p.His17Gln) single nucleotide variant not provided [RCV001896616] Chr18:9102794 [GRCh38]
Chr18:9102792 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_021074.5(NDUFV2):c.583G>C (p.Asp195His) single nucleotide variant not provided [RCV001984829] Chr18:9126834 [GRCh38]
Chr18:9126832 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
NM_021074.5(NDUFV2):c.413C>T (p.Thr138Ile) single nucleotide variant not provided [RCV002002986] Chr18:9122625 [GRCh38]
Chr18:9122623 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.46G>A (p.Ala16Thr) single nucleotide variant not provided [RCV001892393] Chr18:9102789 [GRCh38]
Chr18:9102787 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.512T>C (p.Leu171Pro) single nucleotide variant not provided [RCV001968684] Chr18:9124916 [GRCh38]
Chr18:9124914 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.120+9T>G single nucleotide variant not provided [RCV001948216] Chr18:9117912 [GRCh38]
Chr18:9117910 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.361A>G (p.Met121Val) single nucleotide variant not provided [RCV001888552] Chr18:9122573 [GRCh38]
Chr18:9122571 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.237_246del (p.Leu80fs) deletion not provided [RCV001953604] Chr18:9119527..9119536 [GRCh38]
Chr18:9119525..9119534 [GRCh37]
Chr18:18p11.22		 pathogenic
NM_021074.5(NDUFV2):c.627G>T (p.Lys209Asn) single nucleotide variant not provided [RCV001973428] Chr18:9126878 [GRCh38]
Chr18:9126876 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.143_151del (p.Asn48_Asp50del) deletion not provided [RCV002033029] Chr18:9119345..9119353 [GRCh38]
Chr18:9119343..9119351 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.43A>G (p.Thr15Ala) single nucleotide variant not provided [RCV001938210] Chr18:9102786 [GRCh38]
Chr18:9102784 [GRCh37]
Chr18:18p11.22		 uncertain significance
NC_000018.9:g.(?_9119453)_(9119738_?)del deletion not provided [RCV001923166] Chr18:9119453..9119738 [GRCh37]
Chr18:18p11.22		 uncertain significance
NC_000018.9:g.(?_9102742)_(9134277_?)dup duplication not provided [RCV001992466] Chr18:9102742..9134277 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.562A>G (p.Ile188Val) single nucleotide variant not provided [RCV001923301] Chr18:9124966 [GRCh38]
Chr18:9124964 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.579+16A>G single nucleotide variant not provided [RCV002089982] Chr18:9124999 [GRCh38]
Chr18:9124997 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.21C>G (p.Leu7=) single nucleotide variant not provided [RCV002125749] Chr18:9102764 [GRCh38]
Chr18:9102762 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.580-5dup duplication not provided [RCV002149821] Chr18:9126818..9126819 [GRCh38]
Chr18:9126816..9126817 [GRCh37]
Chr18:18p11.22		 benign
NM_021074.5(NDUFV2):c.540T>C (p.Cys180=) single nucleotide variant not provided [RCV002221102] Chr18:9124944 [GRCh38]
Chr18:9124942 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.747T>G (p.Leu249=) single nucleotide variant not provided [RCV003121240] Chr18:9134276 [GRCh38]
Chr18:9134274 [GRCh37]
Chr18:18p11.22		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
NM_021074.5(NDUFV2):c.528T>C (p.Cys176=) single nucleotide variant not provided [RCV002286244] Chr18:9124932 [GRCh38]
Chr18:9124930 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.547G>A (p.Ala183Thr) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV002283707]|not provided [RCV002511153] Chr18:9124951 [GRCh38]
Chr18:9124949 [GRCh37]
Chr18:18p11.22		 likely pathogenic
NC_000018.9:g.(9124982_9126828)_(9126906_9134183)del deletion Mitochondrial complex 1 deficiency, nuclear type 7 [RCV002282920] Chr18:9126828..9126906 [GRCh37]
Chr18:18p11.22		 likely pathogenic
NM_021074.5(NDUFV2):c.614T>C (p.Ile205Thr) single nucleotide variant not provided [RCV003156467] Chr18:9126865 [GRCh38]
Chr18:9126863 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.664C>T (p.Arg222Cys) single nucleotide variant not provided [RCV003129320] Chr18:9134193 [GRCh38]
Chr18:9134191 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.22(chr18:8585096-9660466)x1 copy number loss not provided [RCV002473808] Chr18:8585096..9660466 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.44C>T (p.Thr15Ile) single nucleotide variant not provided [RCV002301387] Chr18:9102787 [GRCh38]
Chr18:9102785 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.579+1G>A single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV003131708] Chr18:9124984 [GRCh38]
Chr18:9124982 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1 copy number loss not provided [RCV002472559] Chr18:136227..11283184 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.469+13T>A single nucleotide variant not provided [RCV003016260] Chr18:9122694 [GRCh38]
Chr18:9122692 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.204A>C (p.Lys68Asn) single nucleotide variant not provided [RCV002815640] Chr18:9119494 [GRCh38]
Chr18:9119492 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.292A>G (p.Met98Val) single nucleotide variant Inborn genetic diseases [RCV002882726] Chr18:9119582 [GRCh38]
Chr18:9119580 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.503T>C (p.Leu168Pro) single nucleotide variant Inborn genetic diseases [RCV003250544]|not provided [RCV002613896] Chr18:9124907 [GRCh38]
Chr18:9124905 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.184-18G>A single nucleotide variant not provided [RCV002696157] Chr18:9119456 [GRCh38]
Chr18:9119454 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.688G>A (p.Gly230Ser) single nucleotide variant not provided [RCV002910079] Chr18:9134217 [GRCh38]
Chr18:9134215 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.472A>G (p.Ile158Val) single nucleotide variant not provided [RCV002909604] Chr18:9124876 [GRCh38]
Chr18:9124874 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.580-9_580-8insG insertion not provided [RCV002847497] Chr18:9126822..9126823 [GRCh38]
Chr18:9126820..9126821 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.491_492insGT (p.Pro165fs) insertion Inborn genetic diseases [RCV002739418] Chr18:9124895..9124896 [GRCh38]
Chr18:9124893..9124894 [GRCh37]
Chr18:18p11.22		 pathogenic
NM_021074.5(NDUFV2):c.23G>A (p.Arg8Gln) single nucleotide variant not provided [RCV002979377] Chr18:9102766 [GRCh38]
Chr18:9102764 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.11C>T (p.Ser4Phe) single nucleotide variant Inborn genetic diseases [RCV002712297] Chr18:9102754 [GRCh38]
Chr18:9102752 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.54+20G>T single nucleotide variant not provided [RCV002574279] Chr18:9102817 [GRCh38]
Chr18:9102815 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.497A>G (p.Asp166Gly) single nucleotide variant Inborn genetic diseases [RCV002930376] Chr18:9124901 [GRCh38]
Chr18:9124899 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.300+11C>T single nucleotide variant not provided [RCV003005885] Chr18:9119601 [GRCh38]
Chr18:9119599 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.300+2T>A single nucleotide variant not provided [RCV002932962] Chr18:9119592 [GRCh38]
Chr18:9119590 [GRCh37]
Chr18:18p11.22		 likely pathogenic
NM_021074.5(NDUFV2):c.526T>C (p.Cys176Arg) single nucleotide variant not provided [RCV002828663] Chr18:9124930 [GRCh38]
Chr18:9124928 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.324T>C (p.Pro108=) single nucleotide variant not provided [RCV002633106] Chr18:9122536 [GRCh38]
Chr18:9122534 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.183+4T>C single nucleotide variant NDUFV2-related condition [RCV003916676]|not provided [RCV002966932] Chr18:9119392 [GRCh38]
Chr18:9119390 [GRCh37]
Chr18:18p11.22		 likely benign|uncertain significance
NM_021074.5(NDUFV2):c.121-6G>A single nucleotide variant Inborn genetic diseases [RCV002877772] Chr18:9119320 [GRCh38]
Chr18:9119318 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.230_236del (p.Ala77fs) deletion not provided [RCV002770575] Chr18:9119520..9119526 [GRCh38]
Chr18:9119518..9119524 [GRCh37]
Chr18:18p11.22		 pathogenic
NM_021074.5(NDUFV2):c.580-5T>C single nucleotide variant not provided [RCV002833631] Chr18:9126826 [GRCh38]
Chr18:9126824 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.659G>A (p.Ser220Asn) single nucleotide variant Inborn genetic diseases [RCV002792595] Chr18:9134188 [GRCh38]
Chr18:9134186 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.470G>A (p.Gly157Glu) single nucleotide variant Inborn genetic diseases [RCV002831326] Chr18:9124874 [GRCh38]
Chr18:9124872 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.394dup (p.Ile132fs) duplication not provided [RCV002576660] Chr18:9122605..9122606 [GRCh38]
Chr18:9122603..9122604 [GRCh37]
Chr18:18p11.22		 pathogenic
NM_021074.5(NDUFV2):c.505_506del (p.Phe169fs) deletion not provided [RCV002806385] Chr18:9124907..9124908 [GRCh38]
Chr18:9124905..9124906 [GRCh37]
Chr18:18p11.22		 pathogenic
NM_021074.5(NDUFV2):c.45C>T (p.Thr15=) single nucleotide variant not provided [RCV002634846] Chr18:9102788 [GRCh38]
Chr18:9102786 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.120+5G>C single nucleotide variant not provided [RCV003071840] Chr18:9117908 [GRCh38]
Chr18:9117906 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.39C>G (p.Gly13=) single nucleotide variant not provided [RCV002589658] Chr18:9102782 [GRCh38]
Chr18:9102780 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.193G>A (p.Ala65Thr) single nucleotide variant Inborn genetic diseases [RCV003194923] Chr18:9119483 [GRCh38]
Chr18:9119481 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_021074.5(NDUFV2):c.121-3T>C single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV003132865] Chr18:9119323 [GRCh38]
Chr18:9119321 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.250G>C (p.Asp84His) single nucleotide variant Inborn genetic diseases [RCV003308871] Chr18:9119540 [GRCh38]
Chr18:9119538 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.28C>T (p.Arg10Trp) single nucleotide variant not provided [RCV003442745] Chr18:9102771 [GRCh38]
Chr18:9102769 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.415C>T (p.Pro139Ser) single nucleotide variant not provided [RCV003739355] Chr18:9122627 [GRCh38]
Chr18:9122625 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_021074.5(NDUFV2):c.206dup (p.Asn69fs) duplication not provided [RCV003711964] Chr18:9119490..9119491 [GRCh38]
Chr18:9119488..9119489 [GRCh37]
Chr18:18p11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3 copy number gain not specified [RCV003987271] Chr18:2922899..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1 copy number loss not specified [RCV003987270] Chr18:136226..10365982 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_021074.5(NDUFV2):c.381T>C (p.Val127=) single nucleotide variant NDUFV2-related condition [RCV003961970] Chr18:9122593 [GRCh38]
Chr18:9122591 [GRCh37]
Chr18:18p11.22		 likely benign
NM_021074.5(NDUFV2):c.656+8T>A single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 7 [RCV003985136] Chr18:9126915 [GRCh38]
Chr18:9126913 [GRCh37]
Chr18:18p11.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:868
Count of miRNA genes:508
Interacting mature miRNAs:552
Transcripts:ENST00000318388, ENST00000400033, ENST00000465096, ENST00000474350, ENST00000474740, ENST00000483511, ENST00000497577, ENST00000577703, ENST00000583375
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH98860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,121,455 - 9,121,585UniSTSGRCh37
Build 36189,111,455 - 9,111,585RGDNCBI36
Celera189,005,741 - 9,005,871RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,085,197 - 9,085,327UniSTS
GeneMap99-GB4 RH Map1862.26UniSTS
RH91274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,122,637 - 9,122,782UniSTSGRCh37
Build 36189,112,637 - 9,112,782RGDNCBI36
Celera189,006,923 - 9,007,068RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,086,379 - 9,086,524UniSTS
GeneMap99-GB4 RH Map1862.26UniSTS
SHGC-146539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,134,256 - 9,134,594UniSTSGRCh37
Build 36189,124,256 - 9,124,594RGDNCBI36
Celera189,018,542 - 9,018,880RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,097,999 - 9,098,337UniSTS
TNG Radiation Hybrid Map184774.0UniSTS
RH46470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,132,652 - 9,132,792UniSTSGRCh37
Build 36189,122,652 - 9,122,792RGDNCBI36
Celera189,016,938 - 9,017,078RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,096,395 - 9,096,535UniSTS
GeneMap99-GB4 RH Map1861.25UniSTS
NCBI RH Map1875.6UniSTS
RH70796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,113,996 - 9,114,139UniSTSGRCh37
Build 36189,103,996 - 9,104,139RGDNCBI36
Celera188,998,278 - 8,998,421RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,077,735 - 9,077,878UniSTS
GeneMap99-GB4 RH Map1862.26UniSTS
NCBI RH Map1891.9UniSTS
RH71433  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18p11.22UniSTS
GeneMap99-GB4 RH Map19301.4UniSTS
NCBI RH Map19576.1UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2348 2831 1630 566 1438 408 4306 2151 3583 304 1336 1470 168 1204 2787 2
Low 84 150 91 54 508 54 49 41 120 113 112 138 3 1 3
Below cutoff 2 6 4 2 3 2 1 10 2 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF147367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW051350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG742948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB121843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D64176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D88548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318388   ⟹   ENSP00000327268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,102,699 - 9,134,341 (+)Ensembl
RefSeq Acc Id: ENST00000400033   ⟹   ENSP00000382908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,104,082 - 9,134,345 (+)Ensembl
RefSeq Acc Id: ENST00000465096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,119,473 - 9,134,341 (+)Ensembl
RefSeq Acc Id: ENST00000474350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,117,387 - 9,119,525 (+)Ensembl
RefSeq Acc Id: ENST00000474740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,126,627 - 9,134,295 (+)Ensembl
RefSeq Acc Id: ENST00000483511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,117,526 - 9,119,566 (+)Ensembl
RefSeq Acc Id: ENST00000497577   ⟹   ENSP00000464504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,102,695 - 9,103,856 (+)Ensembl
RefSeq Acc Id: ENST00000577703   ⟹   ENSP00000461911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,102,630 - 9,117,887 (+)Ensembl
RefSeq Acc Id: ENST00000583375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,102,818 - 9,117,903 (+)Ensembl
RefSeq Acc Id: NM_021074   ⟹   NP_066552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,102,699 - 9,134,341 (+)NCBI
GRCh37189,102,628 - 9,134,343 (+)ENTREZGENE
Build 36189,092,725 - 9,124,336 (+)NCBI Archive
HuRef189,066,364 - 9,098,086 (+)ENTREZGENE
CHM1_1189,102,807 - 9,134,528 (+)NCBI
T2T-CHM13v2.0189,266,137 - 9,297,787 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025782   ⟹   XP_016881271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,112,038 - 9,134,341 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054318661   ⟹   XP_054174636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,266,534 - 9,297,787 (+)NCBI
RefSeq Acc Id: XR_008485000
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,266,137 - 9,297,787 (+)NCBI
RefSeq Acc Id: XR_243808
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,102,699 - 9,134,341 (+)NCBI
GRCh37189,102,628 - 9,134,343 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_066552   ⟸   NM_021074
- Peptide Label: precursor
- UniProtKB: Q9BV41 (UniProtKB/Swiss-Prot),   P19404 (UniProtKB/Swiss-Prot),   A8K750 (UniProtKB/TrEMBL),   Q6IB76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881271   ⟸   XM_017025782
- Peptide Label: isoform X1
- UniProtKB: Q9UEH5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382908   ⟸   ENST00000400033
RefSeq Acc Id: ENSP00000464504   ⟸   ENST00000497577
RefSeq Acc Id: ENSP00000461911   ⟸   ENST00000577703
RefSeq Acc Id: ENSP00000327268   ⟸   ENST00000318388
RefSeq Acc Id: XP_054174636   ⟸   XM_054318661
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19404-F1-model_v2 AlphaFold P19404 1-249 view protein structure

Promoters
RGD ID:6794935
Promoter ID:HG_KWN:27585
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000254475,   OTTHUMT00000258945
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,092,324 - 9,092,824 (+)MPROMDB
RGD ID:6853112
Promoter ID:EP74377
Type:initiation region
Name:HS_NDUFV2
Description:NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,092,703 - 9,092,763EPD
RGD ID:6794844
Promoter ID:HG_KWN:27586
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000400033
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,093,256 - 9,094,212 (+)MPROMDB
RGD ID:7236905
Promoter ID:EPDNEW_H24198
Type:initiation region
Name:NDUFV2_1
Description:NADH:ubiquinone oxidoreductase core subunit V2
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
GRCh38189,102,731 - 9,102,791EPDNEW
RGD ID:6794939
Promoter ID:HG_KWN:27587
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000258946,   OTTHUMT00000258949
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,106,866 - 9,107,622 (+)MPROMDB
RGD ID:6794941
Promoter ID:HG_KWN:27588
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000258948
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,108,386 - 9,108,886 (+)MPROMDB
RGD ID:6794936
Promoter ID:HG_KWN:27589
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000258947
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,116,016 - 9,116,517 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7717 AgrOrtholog
COSMIC NDUFV2 COSMIC
Ensembl Genes ENSG00000178127 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318388 ENTREZGENE
  ENST00000318388.11 UniProtKB/Swiss-Prot
  ENST00000400033.1 UniProtKB/TrEMBL
  ENST00000497577.2 UniProtKB/TrEMBL
  ENST00000577703.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.1590 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178127 GTEx
HGNC ID HGNC:7717 ENTREZGENE
Human Proteome Map NDUFV2 Human Proteome Map
InterPro NuoE-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NuoE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NuoE_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4729 UniProtKB/Swiss-Prot
NCBI Gene 4729 ENTREZGENE
OMIM 600532 OMIM
PANTHER NADH DEHYDROGENASE [UBIQUINONE] FLAVOPROTEIN 2, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADH DEHYDROGENASE UBIQUINONE FLAVOPROTEIN 2, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 2Fe-2S_thioredx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31527 PharmGKB
PIRSF NADH_DH_24kDa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE COMPLEX1_24K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K750 ENTREZGENE, UniProtKB/TrEMBL
  E7EPT4_HUMAN UniProtKB/TrEMBL
  J3KRB4_HUMAN UniProtKB/TrEMBL
  J3QS34_HUMAN UniProtKB/TrEMBL
  NDUV2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IB76 ENTREZGENE, UniProtKB/TrEMBL
  Q6IPW4_HUMAN UniProtKB/TrEMBL
  Q9BV41 ENTREZGENE
  Q9UEH5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q9BV41 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFV2  NADH:ubiquinone oxidoreductase core subunit V2  NDUFV2  NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa  Symbol and/or name change 5135510 APPROVED