MICU1 (mitochondrial calcium uptake 1) - Rat Genome Database

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Gene: MICU1 (mitochondrial calcium uptake 1) Homo sapiens
Analyze
Symbol: MICU1
Name: mitochondrial calcium uptake 1
RGD ID: 1353540
HGNC Page HGNC:1530
Description: Enables calcium ion binding activity; identical protein binding activity; and protein heterodimerization activity. Involved in several processes, including calcium ion transport; positive regulation of mitochondrial calcium ion concentration; and regulation of cellular hyperosmotic salinity response. Located in mitochondrial inner membrane and mitochondrial intermembrane space. Part of uniplex complex. Implicated in myopathy with extrapyramidal signs.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ara CALC; atopy related autoantigen; atopy-related autoantigen CALC; CALC; calcium binding atopy-related autoantigen 1; calcium uptake protein 1, mitochondrial; calcium-binding atopy-related autoantigen 1; CBARA1; DKFZp564C246; EFHA3; FLJ12684; MPXPS
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
GRCh381072,367,340 - 72,626,079 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1072,367,340 - 72,626,131 (-)EnsemblGRCh38hg38GRCh38
GRCh371074,127,098 - 74,385,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,797,104 - 74,055,905 (-)NCBINCBI36Build 36hg18NCBI36
Build 341073,797,103 - 74,055,843NCBI
Celera1067,411,407 - 67,671,032 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1068,121,247 - 68,379,597 (-)NCBIHuRef
CHM1_11074,408,857 - 74,667,691 (-)NCBICHM1_1
T2T-CHM13v2.01073,238,332 - 73,497,425 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal basal ganglia MRI signal intensity  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the nervous system  (IAGP)
Amblyopia  (IAGP)
Anteverted nares  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Calf muscle hypertrophy  (IAGP)
Cardiomyopathy  (IAGP)
Central core regions in muscle fibers  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Cerebellar dysplasia  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Clonus  (IAGP)
Clumsiness  (IAGP)
Delayed speech and language development  (IAGP)
Difficulty running  (IAGP)
Difficulty walking  (IAGP)
Dystonia  (IAGP)
Easy fatigability  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Encephalomalacia  (IAGP)
Epicanthus  (IAGP)
Extremely elevated creatine kinase  (IAGP)
Frequent falls  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hyperactivity  (IAGP)
Hyperlysinemia  (IAGP)
Hypertelorism  (IAGP)
Hypervalinemia  (IAGP)
Hypoplastic anterior limbs of the internal capsule  (IAGP)
Hypotonia  (IAGP)
Increased CSF protein concentration  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Involuntary movements  (IAGP)
Joint hypermobility  (IAGP)
Leukocytosis  (IAGP)
Microcephaly  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Narrow face  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Orofacial dyskinesia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Progressive extrapyramidal movement disorder  (IAGP)
Progressive extrapyramidal muscular rigidity  (IAGP)
Proximal muscle weakness  (IAGP)
Ptosis  (IAGP)
Resting tremor  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Soft, doughy skin  (IAGP)
Specific learning disability  (IAGP)
Splenomegaly  (IAGP)
Status epilepticus  (IAGP)
Tented upper lip vermilion  (IAGP)
Tremor  (IAGP)
Ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients. Natter S, etal., FASEB J 1998 Nov;12(14):1559-69.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8125298   PMID:11230166   PMID:12477932   PMID:14702039   PMID:16344560   PMID:16385451   PMID:19615732   PMID:19919870   PMID:20693986   PMID:20877624   PMID:21685886   PMID:21685888  
PMID:21832049   PMID:21873635   PMID:22904319   PMID:22925203   PMID:23101630   PMID:23178883   PMID:23615904   PMID:23667653   PMID:23747253   PMID:24231807   PMID:24332854   PMID:24336167  
PMID:24430870   PMID:24503055   PMID:24514027   PMID:24560927   PMID:25824785   PMID:26186194   PMID:26336993   PMID:26387864   PMID:26489515   PMID:26903221   PMID:26975899   PMID:27099988  
PMID:27173435   PMID:27297032   PMID:27499296   PMID:27642082   PMID:28132899   PMID:28514442   PMID:28530221   PMID:28611215   PMID:28615291   PMID:28986522   PMID:29241542   PMID:29509190  
PMID:29568061   PMID:29987050   PMID:30082385   PMID:30158529   PMID:30242232   PMID:30403999   PMID:30454562   PMID:30504268   PMID:30638448   PMID:31091453   PMID:31427612   PMID:31527615  
PMID:31533452   PMID:31617661   PMID:31665639   PMID:31862210   PMID:32317369   PMID:32494073   PMID:32667285   PMID:32694731   PMID:32707033   PMID:32790952   PMID:32877691   PMID:32994395  
PMID:33296646   PMID:33428302   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35269658   PMID:35302860   PMID:35563538   PMID:35914814   PMID:35944360   PMID:36206740   PMID:36215168  
PMID:36526897   PMID:36543142   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
MICU1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381072,367,340 - 72,626,079 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1072,367,340 - 72,626,131 (-)EnsemblGRCh38hg38GRCh38
GRCh371074,127,098 - 74,385,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,797,104 - 74,055,905 (-)NCBINCBI36Build 36hg18NCBI36
Build 341073,797,103 - 74,055,843NCBI
Celera1067,411,407 - 67,671,032 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1068,121,247 - 68,379,597 (-)NCBIHuRef
CHM1_11074,408,857 - 74,667,691 (-)NCBICHM1_1
T2T-CHM13v2.01073,238,332 - 73,497,425 (-)NCBIT2T-CHM13v2.0
Micu1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391059,538,385 - 59,699,956 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1059,538,299 - 59,699,954 (+)EnsemblGRCm39 Ensembl
GRCm381059,702,563 - 59,864,134 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1059,702,477 - 59,864,132 (+)EnsemblGRCm38mm10GRCm38
MGSCv371059,165,383 - 59,326,871 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361059,097,992 - 59,259,480 (+)NCBIMGSCv36mm8
Celera1060,801,731 - 60,961,581 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1029.6NCBI
Micu1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82028,211,774 - 28,357,928 (+)NCBIGRCr8
mRatBN7.22027,668,681 - 27,816,322 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2027,668,747 - 27,814,964 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2028,680,580 - 28,826,479 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02028,066,842 - 28,212,756 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02028,810,036 - 28,955,695 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02029,284,833 - 29,433,617 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2029,284,853 - 29,432,258 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02031,089,733 - 31,237,179 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42027,143,391 - 27,174,811 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2029,110,269 - 29,256,591 (+)NCBICelera
Cytogenetic Map20q11NCBI
Micu1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543719,020,652 - 19,253,789 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543719,021,012 - 19,250,831 (+)NCBIChiLan1.0ChiLan1.0
MICU1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2884,515,095 - 84,779,743 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11084,520,416 - 84,785,055 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01068,887,361 - 69,152,242 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11071,353,886 - 71,617,666 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1071,353,886 - 71,558,246 (-)Ensemblpanpan1.1panPan2
MICU1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1422,989,213 - 23,237,278 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl422,990,034 - 23,237,160 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha423,128,623 - 23,376,383 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0423,272,125 - 23,521,427 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl423,272,125 - 23,521,383 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1423,173,013 - 23,421,218 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0423,373,930 - 23,620,024 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0423,727,629 - 23,976,011 (-)NCBIUU_Cfam_GSD_1.0
Micu1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721357,908,101 - 58,083,579 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365216,400,804 - 6,577,134 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365216,400,849 - 6,576,304 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MICU1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1475,203,752 - 75,445,626 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11475,203,731 - 75,445,628 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21481,253,348 - 81,512,159 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MICU1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1958,685,604 - 58,941,954 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl958,685,644 - 58,944,928 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604819,291,377 - 19,553,690 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Micu1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247546,164,683 - 6,368,125 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247546,165,561 - 6,367,789 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MICU1
257 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001195518.2(MICU1):c.1072-1G>C single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV000087303]|not provided [RCV001818255] Chr10:72408038 [GRCh38]
Chr10:74167796 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.735+1G>A single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV000087304]|not provided [RCV001573399] Chr10:72477173 [GRCh38]
Chr10:74236931 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) single nucleotide variant Abnormality of the nervous system [RCV001814130]|Proximal myopathy with extrapyramidal signs [RCV000985189]|not provided [RCV000254969] Chr10:72508260 [GRCh38]
Chr10:74268018 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001195518.2(MICU1):c.386G>C (p.Arg129Pro) single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV001527686]|not provided [RCV000340498] Chr10:72551286 [GRCh38]
Chr10:74311044 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001195518.2(MICU1):c.638_639del (p.Thr213fs) microsatellite not provided [RCV000348958] Chr10:72508168..72508169 [GRCh38]
Chr10:74267926..74267927 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.40del (p.Ala14fs) deletion Inborn genetic diseases [RCV001266017]|Neurodevelopmental disorder [RCV002279272]|Proximal myopathy with extrapyramidal signs [RCV000496192]|not provided [RCV003727739] Chr10:72566754 [GRCh38]
Chr10:74326512 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_001195518.2(MICU1):c.652+2T>G single nucleotide variant not provided [RCV000598895] Chr10:72508153 [GRCh38]
Chr10:74267911 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.934-14T>A single nucleotide variant not specified [RCV000603685] Chr10:72423385 [GRCh38]
Chr10:74183143 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1319G>A (p.Arg440Gln) single nucleotide variant not provided [RCV000584851] Chr10:72368307 [GRCh38]
Chr10:74128065 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1072-1G>A single nucleotide variant not provided [RCV000414698] Chr10:72408038 [GRCh38]
Chr10:74167796 [GRCh37]
Chr10:10q22.1		 pathogenic
GRCh37/hg19 10q22.1(chr10:74175197-74278361)x1 copy number loss See cases [RCV000446917] Chr10:74175197..74278361 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1072-16G>A single nucleotide variant not provided [RCV002064926]|not specified [RCV000434259] Chr10:72408053 [GRCh38]
Chr10:74167811 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.*1C>A single nucleotide variant not provided [RCV001712311] Chr10:72368194 [GRCh38]
Chr10:74127952 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.161+15A>G single nucleotide variant not provided [RCV002060026]|not specified [RCV000421555] Chr10:72566618 [GRCh38]
Chr10:74326376 [GRCh37]
Chr10:10q22.1		 likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001195518.2(MICU1):c.1181-4dup duplication not provided [RCV001704612] Chr10:72375875..72375876 [GRCh38]
Chr10:74135633..74135634 [GRCh37]
Chr10:10q22.1		 benign|likely benign
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter) single nucleotide variant not provided [RCV000498673] Chr10:72551317 [GRCh38]
Chr10:74311075 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter) single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV000496153] Chr10:72423263 [GRCh38]
Chr10:74183021 [GRCh37]
Chr10:10q22.1		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001195518.2(MICU1):c.901C>T (p.Arg301Cys) single nucleotide variant not provided [RCV000524018] Chr10:72475132 [GRCh38]
Chr10:74234890 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_001195518.2(MICU1):c.493+11A>G single nucleotide variant not provided [RCV002066911]|not specified [RCV000609504] Chr10:72551168 [GRCh38]
Chr10:74310926 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.934-13G>T single nucleotide variant not provided [RCV001707839] Chr10:72423384 [GRCh38]
Chr10:74183142 [GRCh37]
Chr10:10q22.1		 benign|likely benign
NM_001195518.2(MICU1):c.1071+8G>A single nucleotide variant not provided [RCV002529452]|not specified [RCV000609251] Chr10:72423226 [GRCh38]
Chr10:74182984 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1029C>T (p.Thr343=) single nucleotide variant not provided [RCV002063961]|not specified [RCV000612106] Chr10:72423276 [GRCh38]
Chr10:74183034 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.538-4A>G single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV001775947]|not provided [RCV000676344] Chr10:72508273 [GRCh38]
Chr10:74268031 [GRCh37]
Chr10:10q22.1		 benign
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001195518.2(MICU1):c.1270+248T>G single nucleotide variant not provided [RCV001583568] Chr10:72375535 [GRCh38]
Chr10:74135293 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1270+229A>G single nucleotide variant not provided [RCV001569909] Chr10:72375554 [GRCh38]
Chr10:74135312 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1425A>G (p.Lys475=) single nucleotide variant not provided [RCV000923160] Chr10:72368201 [GRCh38]
Chr10:74127959 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.493+286C>T single nucleotide variant not provided [RCV000826258] Chr10:72550893 [GRCh38]
Chr10:74310651 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.537+9479G>A single nucleotide variant not provided [RCV000826259] Chr10:72524267 [GRCh38]
Chr10:74284025 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.307C>T (p.Arg103Cys) single nucleotide variant not provided [RCV000965146] Chr10:72562918 [GRCh38]
Chr10:74322676 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1181-66C>A single nucleotide variant not provided [RCV000835745] Chr10:72375938 [GRCh38]
Chr10:74135696 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1270+26A>T single nucleotide variant not provided [RCV000835746] Chr10:72375757 [GRCh38]
Chr10:74135515 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.736-5A>G single nucleotide variant not provided [RCV000842114] Chr10:72475302 [GRCh38]
Chr10:74235060 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.736-224G>A single nucleotide variant not provided [RCV000833026] Chr10:72475521 [GRCh38]
Chr10:74235279 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1072-270T>C single nucleotide variant not provided [RCV000833027] Chr10:72408307 [GRCh38]
Chr10:74168065 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.331-136T>G single nucleotide variant not provided [RCV000834903] Chr10:72551477 [GRCh38]
Chr10:74311235 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1271-118G>A single nucleotide variant not provided [RCV000836567] Chr10:72368473 [GRCh38]
Chr10:74128231 [GRCh37]
Chr10:10q22.1		 benign
GRCh37/hg19 10q22.1(chr10:74133380-74367694)x3 copy number gain not provided [RCV000848072] Chr10:74133380..74367694 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1271-40G>A single nucleotide variant not provided [RCV000834925] Chr10:72368395 [GRCh38]
Chr10:74128153 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.330+75A>G single nucleotide variant not provided [RCV000836207] Chr10:72562820 [GRCh38]
Chr10:74322578 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1271-277A>G single nucleotide variant not provided [RCV000832437] Chr10:72368632 [GRCh38]
Chr10:74128390 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.653-234dup duplication not provided [RCV000826260] Chr10:72477489..72477490 [GRCh38]
Chr10:74237247..74237248 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1072-341T>C single nucleotide variant not provided [RCV000826263] Chr10:72408378 [GRCh38]
Chr10:74168136 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1181-227A>G single nucleotide variant not provided [RCV000832861] Chr10:72376099 [GRCh38]
Chr10:74135857 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.653-92T>C single nucleotide variant not provided [RCV000837300] Chr10:72477348 [GRCh38]
Chr10:74237106 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.736-177A>C single nucleotide variant not provided [RCV000826262] Chr10:72475474 [GRCh38]
Chr10:74235232 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.537+9823T>A single nucleotide variant not provided [RCV000835627] Chr10:72523923 [GRCh38]
Chr10:74283681 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1180+208T>G single nucleotide variant not provided [RCV000832436] Chr10:72407721 [GRCh38]
Chr10:74167479 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.549G>A (p.Gln183=) single nucleotide variant not provided [RCV003106462] Chr10:72508258 [GRCh38]
Chr10:74268016 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.735+35A>G single nucleotide variant not provided [RCV001588315] Chr10:72477139 [GRCh38]
Chr10:74236897 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.538-338G>A single nucleotide variant not provided [RCV001549711] Chr10:72508607 [GRCh38]
Chr10:74268365 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1071+75A>G single nucleotide variant not provided [RCV001692544] Chr10:72423159 [GRCh38]
Chr10:74182917 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.494-37T>A single nucleotide variant not provided [RCV001652093] Chr10:72533826 [GRCh38]
Chr10:74293584 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1181-97A>G single nucleotide variant not provided [RCV001577851] Chr10:72375969 [GRCh38]
Chr10:74135727 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1072-298C>T single nucleotide variant not provided [RCV001559110] Chr10:72408335 [GRCh38]
Chr10:74168093 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1140A>G (p.Ala380=) single nucleotide variant not provided [RCV001559530] Chr10:72407969 [GRCh38]
Chr10:74167727 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.*100C>T single nucleotide variant not provided [RCV001716754] Chr10:72368095 [GRCh38]
Chr10:74127853 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.339A>G (p.Glu113=) single nucleotide variant not provided [RCV000895237] Chr10:72551333 [GRCh38]
Chr10:74311091 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.25G>C (p.Ala9Pro) single nucleotide variant not provided [RCV001813837] Chr10:72566769 [GRCh38]
Chr10:74326527 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.933+72A>G single nucleotide variant not provided [RCV001575899] Chr10:72475028 [GRCh38]
Chr10:74234786 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.652+35G>A single nucleotide variant not provided [RCV001561017] Chr10:72508120 [GRCh38]
Chr10:74267878 [GRCh37]
Chr10:10q22.1		 likely benign
GRCh37/hg19 10q22.1(chr10:74133054-74368127)x3 copy number gain not provided [RCV001006336] Chr10:74133054..74368127 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.538-841C>A single nucleotide variant not provided [RCV001676775] Chr10:72509110 [GRCh38]
Chr10:74268868 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1270+23C>G single nucleotide variant not provided [RCV001564633] Chr10:72375760 [GRCh38]
Chr10:74135518 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.652+232C>G single nucleotide variant not provided [RCV001614205] Chr10:72507923 [GRCh38]
Chr10:74267681 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.736-149dup duplication not provided [RCV001691785] Chr10:72475434..72475435 [GRCh38]
Chr10:74235192..74235193 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.933+41A>G single nucleotide variant not provided [RCV001611180] Chr10:72475059 [GRCh38]
Chr10:74234817 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.251A>G (p.Asn84Ser) single nucleotide variant not provided [RCV001583187] Chr10:72562974 [GRCh38]
Chr10:74322732 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.494-54A>T single nucleotide variant not provided [RCV001668740] Chr10:72533843 [GRCh38]
Chr10:74293601 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1271-31T>G single nucleotide variant not provided [RCV001581340] Chr10:72368386 [GRCh38]
Chr10:74128144 [GRCh37]
Chr10:10q22.1		 likely benign
MICU1, EX9-10DUP duplication Proximal myopathy with extrapyramidal signs [RCV001172236] Chr10:10q22.1 pathogenic
GRCh37/hg19 10q22.1(chr10:74226439-74318714)x1 copy number loss not provided [RCV001260104] Chr10:74226439..74318714 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.*90G>C single nucleotide variant not provided [RCV001572421] Chr10:72368105 [GRCh38]
Chr10:74127863 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.736G>T (p.Val246Phe) single nucleotide variant Inborn genetic diseases [RCV001266405] Chr10:72475297 [GRCh38]
Chr10:74235055 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.310del (p.Ser104fs) deletion Proximal myopathy with extrapyramidal signs [RCV001335371] Chr10:72562915 [GRCh38]
Chr10:74322673 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.161+1G>A single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV001527685]|not provided [RCV001280701] Chr10:72566632 [GRCh38]
Chr10:74326390 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NC_000010.10:g.(?_74234858)_(74237337_?)del deletion not provided [RCV001382497] Chr10:74234858..74237337 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.933+2T>C single nucleotide variant not provided [RCV002863706] Chr10:72475098 [GRCh38]
Chr10:74234856 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter) single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV001328705] Chr10:72551212 [GRCh38]
Chr10:74310970 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_001195518.2(MICU1):c.973_974del (p.Arg325fs) microsatellite not provided [RCV003858443] Chr10:72423331..72423332 [GRCh38]
Chr10:74183089..74183090 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.1072-304G>A single nucleotide variant not provided [RCV001588662] Chr10:72408341 [GRCh38]
Chr10:74168099 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.934-122C>T single nucleotide variant not provided [RCV001688600] Chr10:72423493 [GRCh38]
Chr10:74183251 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.1279G>A (p.Glu427Lys) single nucleotide variant not provided [RCV001586925] Chr10:72368347 [GRCh38]
Chr10:74128105 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.52C>T (p.Arg18Ter) single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV001527687] Chr10:72566742 [GRCh38]
Chr10:74326500 [GRCh37]
Chr10:10q22.1		 pathogenic
NG_033179.1:g.(5183_64397)_(64560_68128)_del deletion Proximal myopathy with extrapyramidal signs [RCV001527688] Chr10:10q22.1 pathogenic
NM_001195518.2(MICU1):c.*112G>A single nucleotide variant not provided [RCV001654032] Chr10:72368083 [GRCh38]
Chr10:74127841 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.77C>G (p.Pro26Arg) single nucleotide variant not provided [RCV003108737] Chr10:72566717 [GRCh38]
Chr10:74326475 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1414G>A (p.Ala472Thr) single nucleotide variant not provided [RCV001761337] Chr10:72368212 [GRCh38]
Chr10:74127970 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.735+2C>G single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV001782438] Chr10:72477172 [GRCh38]
Chr10:74236930 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.1215del (p.Val406fs) deletion Proximal myopathy with extrapyramidal signs [RCV001782439] Chr10:72375838 [GRCh38]
Chr10:74135596 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.355C>G (p.Arg119Gly) single nucleotide variant not provided [RCV001773784] Chr10:72551317 [GRCh38]
Chr10:74311075 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.384C>G (p.Phe128Leu) single nucleotide variant not provided [RCV001786124] Chr10:72551288 [GRCh38]
Chr10:74311046 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.-2+150A>T single nucleotide variant not provided [RCV001786772] Chr10:72625860 [GRCh38]
Chr10:74385618 [GRCh37]
Chr10:10q22.1		 benign
NC_000010.11:g.72626194G>A single nucleotide variant not provided [RCV001732889] Chr10:72626194 [GRCh38]
Chr10:74385952 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.538-1150A>G single nucleotide variant not provided [RCV002008252] Chr10:72509419 [GRCh38]
Chr10:74269177 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_001195518.2(MICU1):c.758A>T (p.Gln253Leu) single nucleotide variant not provided [RCV001874919] Chr10:72475275 [GRCh38]
Chr10:74235033 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.140G>A (p.Ser47Asn) single nucleotide variant not provided [RCV002021969] Chr10:72566654 [GRCh38]
Chr10:74326412 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.598G>T (p.Glu200Ter) single nucleotide variant not provided [RCV001945505] Chr10:72508209 [GRCh38]
Chr10:74267967 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.577A>G (p.Ser193Gly) single nucleotide variant not provided [RCV001908121] Chr10:72508230 [GRCh38]
Chr10:74267988 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_001195518.2(MICU1):c.728T>C (p.Phe243Ser) single nucleotide variant not provided [RCV001946086] Chr10:72477181 [GRCh38]
Chr10:74236939 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.192C>A (p.Asp64Glu) single nucleotide variant not provided [RCV001965494] Chr10:72563033 [GRCh38]
Chr10:74322791 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1035G>A (p.Met345Ile) single nucleotide variant not provided [RCV001983224] Chr10:72423270 [GRCh38]
Chr10:74183028 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.145G>C (p.Gly49Arg) single nucleotide variant not provided [RCV001892498] Chr10:72566649 [GRCh38]
Chr10:74326407 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.891C>A (p.Leu297=) single nucleotide variant not provided [RCV001969576] Chr10:72475142 [GRCh38]
Chr10:74234900 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_001195518.2(MICU1):c.1234G>A (p.Val412Met) single nucleotide variant not provided [RCV001908761] Chr10:72375819 [GRCh38]
Chr10:74135577 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1A>G (p.Met1Val) single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV002086728]|not provided [RCV002043874] Chr10:72566793 [GRCh38]
Chr10:74326551 [GRCh37]
Chr10:10q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001195518.2(MICU1):c.403_407dup (p.Ile137fs) duplication not provided [RCV001982935] Chr10:72551264..72551265 [GRCh38]
Chr10:74311022..74311023 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.533G>A (p.Gly178Glu) single nucleotide variant not provided [RCV001944061] Chr10:72533750 [GRCh38]
Chr10:74293508 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.506A>G (p.Asp169Gly) single nucleotide variant not provided [RCV001963318] Chr10:72533777 [GRCh38]
Chr10:74293535 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.715G>C (p.Asp239His) single nucleotide variant not provided [RCV002048115] Chr10:72477194 [GRCh38]
Chr10:74236952 [GRCh37]
Chr10:10q22.1		 uncertain significance
NC_000010.10:g.(?_74293484)_(74311119_?)del deletion not provided [RCV001981667] Chr10:74293484..74311119 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.459del (p.Arg154fs) deletion not provided [RCV001941829] Chr10:72551213 [GRCh38]
Chr10:74310971 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.946G>T (p.Asp316Tyr) single nucleotide variant not provided [RCV002000550] Chr10:72423359 [GRCh38]
Chr10:74183117 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1317A>G (p.Gln439=) single nucleotide variant not provided [RCV001897961] Chr10:72368309 [GRCh38]
Chr10:74128067 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.287C>G (p.Pro96Arg) single nucleotide variant not provided [RCV001976781] Chr10:72562938 [GRCh38]
Chr10:74322696 [GRCh37]
Chr10:10q22.1		 uncertain significance
NC_000010.10:g.(?_74127953)_(74135650_?)del deletion not provided [RCV001920659] Chr10:74127953..74135650 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.523C>T (p.Arg175Cys) single nucleotide variant not provided [RCV001977588] Chr10:72533760 [GRCh38]
Chr10:74293518 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.538-1133_538-1130del deletion not provided [RCV001994727] Chr10:72509399..72509402 [GRCh38]
Chr10:74269157..74269160 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.183A>G (p.Pro61=) single nucleotide variant not provided [RCV001953978] Chr10:72563042 [GRCh38]
Chr10:74322800 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_001195518.2(MICU1):c.62A>G (p.His21Arg) single nucleotide variant not provided [RCV001973065] Chr10:72566732 [GRCh38]
Chr10:74326490 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.350G>C (p.Arg117Thr) single nucleotide variant not provided [RCV002011981] Chr10:72551322 [GRCh38]
Chr10:74311080 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1041G>T (p.Arg347Ser) single nucleotide variant Inborn genetic diseases [RCV002552197]|not provided [RCV001885857] Chr10:72423264 [GRCh38]
Chr10:74183022 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.892G>A (p.Glu298Lys) single nucleotide variant not provided [RCV001978995] Chr10:72475141 [GRCh38]
Chr10:74234899 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.981T>G (p.Phe327Leu) single nucleotide variant not provided [RCV001916551] Chr10:72423324 [GRCh38]
Chr10:74183082 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.772A>G (p.Met258Val) single nucleotide variant not provided [RCV001906263] Chr10:72475261 [GRCh38]
Chr10:74235019 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.493+1G>A single nucleotide variant not provided [RCV002018600] Chr10:72551178 [GRCh38]
Chr10:74310936 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.1180+1G>A single nucleotide variant not provided [RCV002036254] Chr10:72407928 [GRCh38]
Chr10:74167686 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.615C>G (p.Ser205=) single nucleotide variant not provided [RCV002146496] Chr10:72508192 [GRCh38]
Chr10:74267950 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.501T>G (p.Gly167=) single nucleotide variant not provided [RCV002168128] Chr10:72533782 [GRCh38]
Chr10:74293540 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1181-20G>A single nucleotide variant not provided [RCV002128783] Chr10:72375892 [GRCh38]
Chr10:74135650 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.420T>C (p.Pro140=) single nucleotide variant MICU1-related condition [RCV003933386]|not provided [RCV002111460] Chr10:72551252 [GRCh38]
Chr10:74311010 [GRCh37]
Chr10:10q22.1		 benign|likely benign
NM_001195518.2(MICU1):c.1197G>A (p.Val399=) single nucleotide variant not provided [RCV002145884] Chr10:72375856 [GRCh38]
Chr10:74135614 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.653-8C>T single nucleotide variant MICU1-related condition [RCV003933672]|not provided [RCV002191840] Chr10:72477264 [GRCh38]
Chr10:74237022 [GRCh37]
Chr10:10q22.1		 benign|likely benign
NM_001195518.2(MICU1):c.465C>A (p.Ser155=) single nucleotide variant not provided [RCV002191522] Chr10:72551207 [GRCh38]
Chr10:74310965 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1181-3035A>T single nucleotide variant not provided [RCV002089939] Chr10:72378907 [GRCh38]
Chr10:74138665 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.210C>T (p.Ile70=) single nucleotide variant not provided [RCV002191941] Chr10:72563015 [GRCh38]
Chr10:74322773 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1413C>T (p.Phe471=) single nucleotide variant not provided [RCV002151924] Chr10:72368213 [GRCh38]
Chr10:74127971 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1072-20T>G single nucleotide variant not provided [RCV002125368] Chr10:72408057 [GRCh38]
Chr10:74167815 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.652+12C>T single nucleotide variant not provided [RCV002133588] Chr10:72508143 [GRCh38]
Chr10:74267901 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1271-20G>C single nucleotide variant not provided [RCV002150909] Chr10:72368375 [GRCh38]
Chr10:74128133 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.108G>C (p.Val36=) single nucleotide variant not provided [RCV002072394] Chr10:72566686 [GRCh38]
Chr10:74326444 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.652+13G>A single nucleotide variant not provided [RCV002133714] Chr10:72508142 [GRCh38]
Chr10:74267900 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1278C>A (p.Gly426=) single nucleotide variant not provided [RCV002079149] Chr10:72368348 [GRCh38]
Chr10:74128106 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.63T>C (p.His21=) single nucleotide variant not provided [RCV002099827] Chr10:72566731 [GRCh38]
Chr10:74326489 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.538-1120T>C single nucleotide variant not provided [RCV002216633] Chr10:72509389 [GRCh38]
Chr10:74269147 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.934-16T>A single nucleotide variant not provided [RCV002156395] Chr10:72423387 [GRCh38]
Chr10:74183145 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.609C>T (p.Leu203=) single nucleotide variant not provided [RCV002117657] Chr10:72508198 [GRCh38]
Chr10:74267956 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.735+17A>G single nucleotide variant not provided [RCV002142157] Chr10:72477157 [GRCh38]
Chr10:74236915 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.493+12A>G single nucleotide variant not provided [RCV002217683] Chr10:72551167 [GRCh38]
Chr10:74310925 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.222G>A (p.Gly74=) single nucleotide variant not provided [RCV002202651] Chr10:72563003 [GRCh38]
Chr10:74322761 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.765T>C (p.Ser255=) single nucleotide variant not provided [RCV002138789] Chr10:72475268 [GRCh38]
Chr10:74235026 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.331-6C>T single nucleotide variant not provided [RCV002162429] Chr10:72551347 [GRCh38]
Chr10:74311105 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.330+10A>C single nucleotide variant not provided [RCV002184515] Chr10:72562885 [GRCh38]
Chr10:74322643 [GRCh37]
Chr10:10q22.1		 likely benign
NC_000010.10:g.(?_74322633)_(74322841_?)del deletion not provided [RCV003116521] Chr10:74322633..74322841 [GRCh37]
Chr10:10q22.1		 pathogenic
NC_000010.10:g.(?_74167667)_(74183149_?)del deletion not provided [RCV003116522] Chr10:74167667..74183149 [GRCh37]
Chr10:10q22.1		 pathogenic
NC_000010.10:g.(?_74182972)_(74326551_?)del deletion not provided [RCV003116523] Chr10:74182972..74326551 [GRCh37]
Chr10:10q22.1		 pathogenic
NC_000010.10:g.(?_74135521)_(74326551_?)dup duplication not provided [RCV003116524] Chr10:74135521..74326551 [GRCh37]
Chr10:10q22.1		 uncertain significance
NC_000010.10:g.(?_74322633)_(74326551_?)dup duplication not provided [RCV003116525] Chr10:74322633..74326551 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1274A>G (p.Asn425Ser) single nucleotide variant not provided [RCV003118120] Chr10:72368352 [GRCh38]
Chr10:74128110 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.385C>T (p.Arg129Ter) single nucleotide variant Neurodevelopmental disorder [RCV002277672]|not provided [RCV003774889] Chr10:72551287 [GRCh38]
Chr10:74311045 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.1096A>C (p.Asn366His) single nucleotide variant not provided [RCV002275952] Chr10:72408013 [GRCh38]
Chr10:74167771 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.239G>A (p.Gly80Glu) single nucleotide variant not provided [RCV002296994] Chr10:72562986 [GRCh38]
Chr10:74322744 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2:g.(?_74326370)_(74326571_?)del deletion Proximal myopathy with extrapyramidal signs [RCV002273879]   pathogenic
NM_001195518.2(MICU1):c.538-20G>A single nucleotide variant Proximal myopathy with extrapyramidal signs [RCV002288399] Chr10:72508289 [GRCh38]
Chr10:74268047 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.341A>G (p.Tyr114Cys) single nucleotide variant Inborn genetic diseases [RCV003258572] Chr10:72551331 [GRCh38]
Chr10:74311089 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.468A>G (p.Ile156Met) single nucleotide variant not provided [RCV003033425] Chr10:72551204 [GRCh38]
Chr10:74310962 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.538-3T>C single nucleotide variant not provided [RCV002617120] Chr10:72508272 [GRCh38]
Chr10:74268030 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.829G>T (p.Ala277Ser) single nucleotide variant not provided [RCV002681725] Chr10:72475204 [GRCh38]
Chr10:74234962 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1154A>G (p.His385Arg) single nucleotide variant not provided [RCV002615497] Chr10:72407955 [GRCh38]
Chr10:74167713 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.330+3A>G single nucleotide variant not provided [RCV002488684] Chr10:72562892 [GRCh38]
Chr10:74322650 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1206A>G (p.Thr402=) single nucleotide variant not provided [RCV002756515] Chr10:72375847 [GRCh38]
Chr10:74135605 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.537+1G>T single nucleotide variant not provided [RCV002681284] Chr10:72533745 [GRCh38]
Chr10:74293503 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.259A>G (p.Lys87Glu) single nucleotide variant not provided [RCV003012130] Chr10:72562966 [GRCh38]
Chr10:74322724 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.653-4G>A single nucleotide variant not provided [RCV002816326] Chr10:72477260 [GRCh38]
Chr10:74237018 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.894A>G (p.Glu298=) single nucleotide variant not provided [RCV002613419] Chr10:72475139 [GRCh38]
Chr10:74234897 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.60C>T (p.Tyr20=) single nucleotide variant not provided [RCV002755095] Chr10:72566734 [GRCh38]
Chr10:74326492 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.790C>A (p.Pro264Thr) single nucleotide variant Inborn genetic diseases [RCV002818565] Chr10:72475243 [GRCh38]
Chr10:74235001 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.696G>C (p.Leu232Phe) single nucleotide variant Inborn genetic diseases [RCV002865218] Chr10:72477213 [GRCh38]
Chr10:74236971 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.793A>G (p.Thr265Ala) single nucleotide variant not provided [RCV002617478] Chr10:72475240 [GRCh38]
Chr10:74234998 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.162-1G>C single nucleotide variant not provided [RCV003039338] Chr10:72563064 [GRCh38]
Chr10:74322822 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.613T>A (p.Ser205Thr) single nucleotide variant not provided [RCV002621896] Chr10:72508194 [GRCh38]
Chr10:74267952 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.178CCA[1] (p.Pro61del) microsatellite not provided [RCV002694989] Chr10:72563042..72563044 [GRCh38]
Chr10:74322800..74322802 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.735+14G>A single nucleotide variant not provided [RCV003036830] Chr10:72477160 [GRCh38]
Chr10:74236918 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.7C>T (p.Arg3Cys) single nucleotide variant not provided [RCV002639854] Chr10:72566787 [GRCh38]
Chr10:74326545 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1203G>C (p.Arg401Ser) single nucleotide variant Inborn genetic diseases [RCV002798911] Chr10:72375850 [GRCh38]
Chr10:74135608 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1124A>G (p.Asn375Ser) single nucleotide variant not provided [RCV002927982] Chr10:72407985 [GRCh38]
Chr10:74167743 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.331-18C>T single nucleotide variant not provided [RCV002846779] Chr10:72551359 [GRCh38]
Chr10:74311117 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.941G>A (p.Arg314His) single nucleotide variant not provided [RCV003020685] Chr10:72423364 [GRCh38]
Chr10:74183122 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.640A>G (p.Thr214Ala) single nucleotide variant not provided [RCV002735424] Chr10:72508167 [GRCh38]
Chr10:74267925 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1378A>G (p.Met460Val) single nucleotide variant not provided [RCV002866307] Chr10:72368248 [GRCh38]
Chr10:74128006 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.538-1139A>G single nucleotide variant not provided [RCV002590877] Chr10:72509408 [GRCh38]
Chr10:74269166 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.83A>G (p.Gln28Arg) single nucleotide variant Inborn genetic diseases [RCV002886019]|not provided [RCV002886020] Chr10:72566711 [GRCh38]
Chr10:74326469 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1071+15C>T single nucleotide variant not provided [RCV002590923] Chr10:72423219 [GRCh38]
Chr10:74182977 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1001A>G (p.Tyr334Cys) single nucleotide variant Inborn genetic diseases [RCV002822538] Chr10:72423304 [GRCh38]
Chr10:74183062 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.263del (p.Lys88fs) deletion not provided [RCV003036012] Chr10:72562962 [GRCh38]
Chr10:74322720 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.493+13A>C single nucleotide variant not provided [RCV002781392] Chr10:72551166 [GRCh38]
Chr10:74310924 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.734del (p.Gln245fs) deletion not provided [RCV002867915] Chr10:72477175 [GRCh38]
Chr10:74236933 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.1180+17dup duplication not provided [RCV002621211] Chr10:72407911..72407912 [GRCh38]
Chr10:74167669..74167670 [GRCh37]
Chr10:10q22.1		 benign
NM_001195518.2(MICU1):c.88C>T (p.Arg30Trp) single nucleotide variant not provided [RCV002976051] Chr10:72566706 [GRCh38]
Chr10:74326464 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1180+10C>T single nucleotide variant not provided [RCV002823836] Chr10:72407919 [GRCh38]
Chr10:74167677 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1270+12C>T single nucleotide variant not provided [RCV002910176] Chr10:72375771 [GRCh38]
Chr10:74135529 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1072-16G>C single nucleotide variant not provided [RCV002870838] Chr10:72408053 [GRCh38]
Chr10:74167811 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.788G>A (p.Arg263His) single nucleotide variant not provided [RCV002886677] Chr10:72475245 [GRCh38]
Chr10:74235003 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1180+14A>G single nucleotide variant not provided [RCV002658903] Chr10:72407915 [GRCh38]
Chr10:74167673 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.900del (p.Gln300fs) deletion not provided [RCV002797147] Chr10:72475133 [GRCh38]
Chr10:74234891 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.1410C>T (p.Asp470=) single nucleotide variant not provided [RCV002597378] Chr10:72368216 [GRCh38]
Chr10:74127974 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.771T>C (p.Gly257=) single nucleotide variant not provided [RCV002871988] Chr10:72475262 [GRCh38]
Chr10:74235020 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1253C>T (p.Ala418Val) single nucleotide variant Inborn genetic diseases [RCV002768366] Chr10:72375800 [GRCh38]
Chr10:74135558 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1072-18C>T single nucleotide variant not provided [RCV002574949] Chr10:72408055 [GRCh38]
Chr10:74167813 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.902G>A (p.Arg301His) single nucleotide variant not provided [RCV002575043] Chr10:72475131 [GRCh38]
Chr10:74234889 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.673A>G (p.Ile225Val) single nucleotide variant not provided [RCV002643080] Chr10:72477236 [GRCh38]
Chr10:74236994 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.356G>A (p.Arg119Gln) single nucleotide variant not provided [RCV002642505] Chr10:72551316 [GRCh38]
Chr10:74311074 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1314G>A (p.Lys438=) single nucleotide variant not provided [RCV003042519] Chr10:72368312 [GRCh38]
Chr10:74128070 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.489A>G (p.Pro163=) single nucleotide variant not provided [RCV002710975] Chr10:72551183 [GRCh38]
Chr10:74310941 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.538-1151G>A single nucleotide variant not provided [RCV002801276] Chr10:72509420 [GRCh38]
Chr10:74269178 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1341G>A (p.Lys447=) single nucleotide variant not provided [RCV002625614] Chr10:72368285 [GRCh38]
Chr10:74128043 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.187G>A (p.Val63Ile) single nucleotide variant Inborn genetic diseases [RCV002802388] Chr10:72563038 [GRCh38]
Chr10:74322796 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.933+20A>G single nucleotide variant not provided [RCV002642648] Chr10:72475080 [GRCh38]
Chr10:74234838 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.116T>A (p.Leu39Gln) single nucleotide variant not provided [RCV002829136] Chr10:72566678 [GRCh38]
Chr10:74326436 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1270+6T>C single nucleotide variant not provided [RCV002745414] Chr10:72375777 [GRCh38]
Chr10:74135535 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.91C>T (p.Arg31Ter) single nucleotide variant not provided [RCV002667518] Chr10:72566703 [GRCh38]
Chr10:74326461 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.152T>C (p.Leu51Ser) single nucleotide variant not provided [RCV003024041] Chr10:72566642 [GRCh38]
Chr10:74326400 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.933+13T>C single nucleotide variant not provided [RCV002626621] Chr10:72475087 [GRCh38]
Chr10:74234845 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.114C>G (p.Phe38Leu) single nucleotide variant not provided [RCV003006413] Chr10:72566680 [GRCh38]
Chr10:74326438 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.903_908del (p.Lys302_Leu303del) deletion not provided [RCV003047323] Chr10:72475125..72475130 [GRCh38]
Chr10:74234883..74234888 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.538-1114A>G single nucleotide variant not provided [RCV002833654] Chr10:72509383 [GRCh38]
Chr10:74269141 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.547C>G (p.Gln183Glu) single nucleotide variant not provided [RCV003030939] Chr10:72508260 [GRCh38]
Chr10:74268018 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.736-5A>T single nucleotide variant not provided [RCV003048915] Chr10:72475302 [GRCh38]
Chr10:74235060 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.439_440del (p.Met147fs) deletion not provided [RCV002832894] Chr10:72551232..72551233 [GRCh38]
Chr10:74310990..74310991 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.1154A>C (p.His385Pro) single nucleotide variant not provided [RCV002716965] Chr10:72407955 [GRCh38]
Chr10:74167713 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1270+9G>T single nucleotide variant not provided [RCV002716033] Chr10:72375774 [GRCh38]
Chr10:74135532 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.777C>T (p.Arg259=) single nucleotide variant not provided [RCV002933525] Chr10:72475256 [GRCh38]
Chr10:74235014 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1003A>G (p.Ser335Gly) single nucleotide variant not provided [RCV002576982] Chr10:72423302 [GRCh38]
Chr10:74183060 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.845T>C (p.Phe282Ser) single nucleotide variant not provided [RCV003087380] Chr10:72475188 [GRCh38]
Chr10:74234946 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.977A>G (p.Gln326Arg) single nucleotide variant not provided [RCV002810136] Chr10:72423328 [GRCh38]
Chr10:74183086 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.447A>G (p.Pro149=) single nucleotide variant not provided [RCV002806399] Chr10:72551225 [GRCh38]
Chr10:74310983 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.626A>T (p.Tyr209Phe) single nucleotide variant not provided [RCV002833598] Chr10:72508181 [GRCh38]
Chr10:74267939 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.190G>A (p.Asp64Asn) single nucleotide variant not provided [RCV003047983] Chr10:72563035 [GRCh38]
Chr10:74322793 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.326G>C (p.Arg109Thr) single nucleotide variant not provided [RCV002631390] Chr10:72562899 [GRCh38]
Chr10:74322657 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.191A>G (p.Asp64Gly) single nucleotide variant not provided [RCV002630636] Chr10:72563034 [GRCh38]
Chr10:74322792 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1372C>A (p.Gln458Lys) single nucleotide variant not provided [RCV002720681] Chr10:72368254 [GRCh38]
Chr10:74128012 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.792A>C (p.Pro264=) single nucleotide variant not provided [RCV003046237] Chr10:72475241 [GRCh38]
Chr10:74234999 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.603T>C (p.Cys201=) single nucleotide variant not provided [RCV002720408] Chr10:72508204 [GRCh38]
Chr10:74267962 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.759A>G (p.Gln253=) single nucleotide variant not provided [RCV003049695] Chr10:72475274 [GRCh38]
Chr10:74235032 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1071+14G>T single nucleotide variant not provided [RCV003050106] Chr10:72423220 [GRCh38]
Chr10:74182978 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1394A>C (p.Gln465Pro) single nucleotide variant not provided [RCV002942760] Chr10:72368232 [GRCh38]
Chr10:74127990 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.736G>A (p.Val246Ile) single nucleotide variant not provided [RCV003032163] Chr10:72475297 [GRCh38]
Chr10:74235055 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1323G>A (p.Leu441=) single nucleotide variant not provided [RCV002609287] Chr10:72368303 [GRCh38]
Chr10:74128061 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1257C>A (p.Leu419=) single nucleotide variant not provided [RCV002584309] Chr10:72375796 [GRCh38]
Chr10:74135554 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1181-3035A>G single nucleotide variant not provided [RCV002721773] Chr10:72378907 [GRCh38]
Chr10:74138665 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.53G>A (p.Arg18Gln) single nucleotide variant not provided [RCV002583351] Chr10:72566741 [GRCh38]
Chr10:74326499 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh38/hg38 10q22.1(chr10:72485363-72566418) copy number loss See cases [RCV003223553] Chr10:72485363..72566418 [GRCh38]
Chr10:10q22.1		 pathogenic|uncertain significance
NM_001195518.2(MICU1):c.1052A>G (p.Lys351Arg) single nucleotide variant Inborn genetic diseases [RCV003199987] Chr10:72423253 [GRCh38]
Chr10:74183011 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_001195518.2(MICU1):c.205G>A (p.Asp69Asn) single nucleotide variant not provided [RCV003880093] Chr10:72563020 [GRCh38]
Chr10:74322778 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.1271-20_1271-18del microsatellite not provided [RCV003875627] Chr10:72368373..72368375 [GRCh38]
Chr10:74128131..74128133 [GRCh37]
Chr10:10q22.1		 likely benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1 copy number loss not provided [RCV003483098] Chr10:73321269..74612651 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.553C>T (p.Arg185Ter) single nucleotide variant MICU1-related condition [RCV003397615] Chr10:72508254 [GRCh38]
Chr10:74268012 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.1233C>T (p.His411=) single nucleotide variant not provided [RCV003417492] Chr10:72375820 [GRCh38]
Chr10:74135578 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.934-4C>T single nucleotide variant not provided [RCV003828684] Chr10:72423375 [GRCh38]
Chr10:74183133 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.69A>C (p.Gly23=) single nucleotide variant not provided [RCV003688027] Chr10:72566725 [GRCh38]
Chr10:74326483 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.537+8A>G single nucleotide variant not provided [RCV003661206] Chr10:72533738 [GRCh38]
Chr10:74293496 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.735+11del deletion not provided [RCV003826699] Chr10:72477163 [GRCh38]
Chr10:74236921 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.337G>T (p.Glu113Ter) single nucleotide variant not provided [RCV003714646] Chr10:72551335 [GRCh38]
Chr10:74311093 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.653-17T>C single nucleotide variant not provided [RCV003828733] Chr10:72477273 [GRCh38]
Chr10:74237031 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.369G>A (p.Thr123=) single nucleotide variant not provided [RCV003828747] Chr10:72551303 [GRCh38]
Chr10:74311061 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.765dup (p.Met256fs) duplication Proximal myopathy with extrapyramidal signs [RCV003493237] Chr10:72475267..72475268 [GRCh38]
Chr10:74235025..74235026 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.492A>G (p.Glu164=) single nucleotide variant not provided [RCV003572810] Chr10:72551180 [GRCh38]
Chr10:74310938 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_001195518.2(MICU1):c.493+16G>A single nucleotide variant not provided [RCV003825258] Chr10:72551163 [GRCh38]
Chr10:74310921 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1254A>G (p.Ala418=) single nucleotide variant not provided [RCV003697713] Chr10:72375799 [GRCh38]
Chr10:74135557 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.912G>A (p.Gln304=) single nucleotide variant not provided [RCV003811835] Chr10:72475121 [GRCh38]
Chr10:74234879 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1278C>T (p.Gly426=) single nucleotide variant not provided [RCV003850089] Chr10:72368348 [GRCh38]
Chr10:74128106 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.537+17A>G single nucleotide variant not provided [RCV003811030] Chr10:72533729 [GRCh38]
Chr10:74293487 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.161+17C>T single nucleotide variant not provided [RCV003673612] Chr10:72566616 [GRCh38]
Chr10:74326374 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.840C>T (p.Thr280=) single nucleotide variant not provided [RCV003562018] Chr10:72475193 [GRCh38]
Chr10:74234951 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1270+18G>A single nucleotide variant not provided [RCV003670339] Chr10:72375765 [GRCh38]
Chr10:74135523 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1149T>C (p.Phe383=) single nucleotide variant not provided [RCV003670359] Chr10:72407960 [GRCh38]
Chr10:74167718 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.975G>A (p.Arg325=) single nucleotide variant not provided [RCV003854633] Chr10:72423330 [GRCh38]
Chr10:74183088 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.375C>T (p.Asp125=) single nucleotide variant not provided [RCV003814084] Chr10:72551297 [GRCh38]
Chr10:74311055 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.879C>T (p.Ile293=) single nucleotide variant not provided [RCV003814465] Chr10:72475154 [GRCh38]
Chr10:74234912 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.129A>G (p.Ala43=) single nucleotide variant not provided [RCV003837355] Chr10:72566665 [GRCh38]
Chr10:74326423 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.933+15G>A single nucleotide variant not provided [RCV003549298] Chr10:72475085 [GRCh38]
Chr10:74234843 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.652+11A>G single nucleotide variant not provided [RCV003664420] Chr10:72508144 [GRCh38]
Chr10:74267902 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.931G>T (p.Glu311Ter) single nucleotide variant not provided [RCV003677297] Chr10:72475102 [GRCh38]
Chr10:74234860 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_001195518.2(MICU1):c.429A>C (p.Ala143=) single nucleotide variant not provided [RCV003818723] Chr10:72551243 [GRCh38]
Chr10:74311001 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.933+19C>T single nucleotide variant not provided [RCV003819803] Chr10:72475081 [GRCh38]
Chr10:74234839 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.331-19T>C single nucleotide variant not provided [RCV003676102] Chr10:72551360 [GRCh38]
Chr10:74311118 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.537+16C>G single nucleotide variant not provided [RCV003709807] Chr10:72533730 [GRCh38]
Chr10:74293488 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.538-2A>G single nucleotide variant not provided [RCV003566192] Chr10:72508271 [GRCh38]
Chr10:74268029 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.1113A>G (p.Leu371=) single nucleotide variant not provided [RCV003722707] Chr10:72407996 [GRCh38]
Chr10:74167754 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.162-2A>G single nucleotide variant not provided [RCV003706896] Chr10:72563065 [GRCh38]
Chr10:74322823 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_001195518.2(MICU1):c.1164A>G (p.Gly388=) single nucleotide variant not provided [RCV003564000] Chr10:72407945 [GRCh38]
Chr10:74167703 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.933+18T>C single nucleotide variant not provided [RCV003681509] Chr10:72475082 [GRCh38]
Chr10:74234840 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.54A>G (p.Arg18=) single nucleotide variant not provided [RCV003846060] Chr10:72566740 [GRCh38]
Chr10:74326498 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.999C>G (p.Ala333=) single nucleotide variant not provided [RCV003864043] Chr10:72423306 [GRCh38]
Chr10:74183064 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1072-12C>T single nucleotide variant not provided [RCV003866092] Chr10:72408049 [GRCh38]
Chr10:74167807 [GRCh37]
Chr10:10q22.1		 likely benign
NM_001195518.2(MICU1):c.1072-7C>T single nucleotide variant not provided [RCV003728674] Chr10:72408044 [GRCh38]
Chr10:74167802 [GRCh37]
Chr10:10q22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2839
Count of miRNA genes:835
Interacting mature miRNAs:994
Transcripts:ENST00000361114, ENST00000398761, ENST00000398763, ENST00000401998, ENST00000418483, ENST00000476605, ENST00000489666, ENST00000603011, ENST00000603173, ENST00000604025, ENST00000604238, ENST00000604529, ENST00000605385
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH44916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,241,866 - 74,241,968UniSTSGRCh37
Build 361073,911,872 - 73,911,974RGDNCBI36
Celera1067,526,994 - 67,527,096RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,235,538 - 68,235,640UniSTS
GeneMap99-GB4 RH Map10375.5UniSTS
RH92364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,282,334 - 74,282,479UniSTSGRCh37
Build 361073,952,340 - 73,952,485RGDNCBI36
Celera1067,567,448 - 67,567,593RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,275,952 - 68,276,097UniSTS
GeneMap99-GB4 RH Map10374.78UniSTS
RH80361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,127,438 - 74,127,612UniSTSGRCh37
Build 361073,797,444 - 73,797,618RGDNCBI36
Celera1067,411,747 - 67,411,921RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,121,601 - 68,121,775UniSTS
GeneMap99-GB4 RH Map10375.88UniSTS
SHGC-58644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,277,634 - 74,277,742UniSTSGRCh37
Build 361073,947,640 - 73,947,748RGDNCBI36
Celera1067,562,746 - 67,562,854RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,271,250 - 68,271,358UniSTS
TNG Radiation Hybrid Map1033853.0UniSTS
G62645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,254,309 - 74,254,605UniSTSGRCh37
Build 361073,924,315 - 73,924,611RGDNCBI36
Celera1067,539,439 - 67,539,735RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,247,983 - 68,248,279UniSTS
TNG Radiation Hybrid Map1033865.0UniSTS
G63172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,254,309 - 74,254,606UniSTSGRCh37
Build 361073,924,315 - 73,924,612RGDNCBI36
Celera1067,539,439 - 67,539,736RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,247,983 - 68,248,280UniSTS
TNG Radiation Hybrid Map1033865.0UniSTS
SHGC-111140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,243,833 - 74,244,163UniSTSGRCh37
Build 361073,913,839 - 73,914,169RGDNCBI36
Celera1067,528,959 - 67,529,289RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,237,503 - 68,237,833UniSTS
TNG Radiation Hybrid Map1033873.0UniSTS
STS-T80629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,209,487 - 74,209,698UniSTSGRCh37
Build 361073,879,493 - 73,879,704RGDNCBI36
Celera1067,494,596 - 67,494,807RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,203,156 - 68,203,367UniSTS
GeneMap99-GB4 RH Map10376.5UniSTS
RH11031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,127,256 - 74,127,412UniSTSGRCh37
Build 361073,797,262 - 73,797,418RGDNCBI36
Celera1067,411,565 - 67,411,721RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,121,419 - 68,121,575UniSTS
GeneMap99-GB4 RH Map10375.57UniSTS
127XE9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,160,604 - 74,160,791UniSTSGRCh37
Build 361073,830,610 - 73,830,797RGDNCBI36
Celera1067,445,415 - 67,445,602RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,153,998 - 68,154,185UniSTS
Whitehead-RH Map10447.4UniSTS
WI-16794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,364,357 - 74,364,482UniSTSGRCh37
Build 361074,034,363 - 74,034,488RGDNCBI36
Celera1067,649,494 - 67,649,619RGD
Cytogenetic Map10q22.1UniSTS
HuRef1068,358,006 - 68,358,131UniSTS
GeneMap99-GB4 RH Map10374.58UniSTS
Whitehead-RH Map10440.9UniSTS
NCBI RH Map10905.6UniSTS


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 2431 2795 1711 611 1895 454 4354 2068 3572 410 1447 1606 171 1204 2788 2
Low 8 196 15 13 56 11 3 129 162 9 13 7 4 1 4 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU627477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB030067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361114   ⟹   ENSP00000354415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,367,340 - 72,626,079 (-)Ensembl
RefSeq Acc Id: ENST00000398761   ⟹   ENSP00000381745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,367,327 - 72,626,191 (-)Ensembl
RefSeq Acc Id: ENST00000398763   ⟹   ENSP00000381747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,368,111 - 72,523,936 (-)Ensembl
RefSeq Acc Id: ENST00000418483   ⟹   ENSP00000402470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,367,914 - 72,523,953 (-)Ensembl
RefSeq Acc Id: ENST00000476605   ⟹   ENSP00000432492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,367,340 - 72,551,198 (-)Ensembl
RefSeq Acc Id: ENST00000489666   ⟹   ENSP00000474809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,423,248 - 72,523,975 (-)Ensembl
RefSeq Acc Id: ENST00000603011   ⟹   ENSP00000474192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,477,170 - 72,626,078 (-)Ensembl
RefSeq Acc Id: ENST00000604025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,562,711 - 72,626,074 (-)Ensembl
RefSeq Acc Id: ENST00000604238   ⟹   ENSP00000474775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,475,267 - 72,626,111 (-)Ensembl
RefSeq Acc Id: ENST00000604529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,477,174 - 72,508,625 (-)Ensembl
RefSeq Acc Id: ENST00000635239   ⟹   ENSP00000489563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,367,546 - 72,626,131 (-)Ensembl
RefSeq Acc Id: ENST00000642044   ⟹   ENSP00000493232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1072,367,546 - 72,626,131 (-)Ensembl
RefSeq Acc Id: NM_001195518   ⟹   NP_001182447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381072,367,340 - 72,626,079 (-)NCBI
GRCh371074,127,084 - 74,385,949 (-)ENTREZGENE
HuRef1068,121,247 - 68,379,597 (-)ENTREZGENE
CHM1_11074,408,857 - 74,667,691 (-)NCBI
T2T-CHM13v2.01073,238,332 - 73,497,425 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195519   ⟹   NP_001182448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381072,367,340 - 72,523,986 (-)NCBI
GRCh371074,127,084 - 74,385,949 (-)ENTREZGENE
HuRef1068,121,247 - 68,379,597 (-)ENTREZGENE
CHM1_11074,408,857 - 74,565,469 (-)NCBI
T2T-CHM13v2.01073,238,332 - 73,395,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363513   ⟹   NP_001350442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381072,367,340 - 72,626,079 (-)NCBI
T2T-CHM13v2.01073,238,332 - 73,497,425 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006077   ⟹   NP_006068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381072,367,340 - 72,626,079 (-)NCBI
GRCh371074,127,084 - 74,385,949 (-)ENTREZGENE
Build 361073,797,104 - 74,055,905 (-)NCBI Archive
Celera1067,411,407 - 67,671,032 (-)RGD
HuRef1068,121,247 - 68,379,597 (-)ENTREZGENE
CHM1_11074,408,857 - 74,667,691 (-)NCBI
T2T-CHM13v2.01073,238,332 - 73,497,425 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539119   ⟹   XP_011537421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381072,367,340 - 72,626,079 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424440   ⟹   XP_047280396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381072,379,333 - 72,626,079 (-)NCBI
RefSeq Acc Id: XM_047424441   ⟹   XP_047280397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381072,379,333 - 72,626,079 (-)NCBI
RefSeq Acc Id: XM_054364482   ⟹   XP_054220457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01073,238,332 - 73,497,425 (-)NCBI
RefSeq Acc Id: XM_054364483   ⟹   XP_054220458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01073,249,425 - 73,497,425 (-)NCBI
RefSeq Acc Id: XM_054364484   ⟹   XP_054220459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01073,249,589 - 73,497,425 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001182447 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182448 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350442 (Get FASTA)   NCBI Sequence Viewer  
  NP_006068 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537421 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280396 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280397 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220459 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04190 (Get FASTA)   NCBI Sequence Viewer  
  AAH04216 (Get FASTA)   NCBI Sequence Viewer  
  AAH16641 (Get FASTA)   NCBI Sequence Viewer  
  BAB14187 (Get FASTA)   NCBI Sequence Viewer  
  BAG51182 (Get FASTA)   NCBI Sequence Viewer  
  BAG58841 (Get FASTA)   NCBI Sequence Viewer  
  BAG60593 (Get FASTA)   NCBI Sequence Viewer  
  CAA76830 (Get FASTA)   NCBI Sequence Viewer  
  CAB55915 (Get FASTA)   NCBI Sequence Viewer  
  EAW54457 (Get FASTA)   NCBI Sequence Viewer  
  EAW54458 (Get FASTA)   NCBI Sequence Viewer  
  EAW54459 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354415
  ENSP00000354415.5
  ENSP00000381747.4
  ENSP00000402470
  ENSP00000402470.2
  ENSP00000432492.3
  ENSP00000474192.1
  ENSP00000474775.2
  ENSP00000474809.1
  ENSP00000489563.1
  ENSP00000493232
  ENSP00000493232.1
GenBank Protein Q9BPX6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006068   ⟸   NM_006077
- Peptide Label: isoform 1
- UniProtKB: A0A0U1RRK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182447   ⟸   NM_001195518
- Peptide Label: isoform 2
- UniProtKB: Q9H9N6 (UniProtKB/Swiss-Prot),   O75785 (UniProtKB/Swiss-Prot),   D3YTJ3 (UniProtKB/Swiss-Prot),   B5MBY3 (UniProtKB/Swiss-Prot),   B4DPI1 (UniProtKB/Swiss-Prot),   B4DJH9 (UniProtKB/Swiss-Prot),   B3KN20 (UniProtKB/Swiss-Prot),   A8MV96 (UniProtKB/Swiss-Prot),   Q9UFX0 (UniProtKB/Swiss-Prot),   Q9BPX6 (UniProtKB/Swiss-Prot),   A0A0U1RRK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182448   ⟸   NM_001195519
- Peptide Label: isoform 3
- UniProtKB: Q9BPX6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537421   ⟸   XM_011539119
- Peptide Label: isoform X1
- UniProtKB: A0A0U1RRK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350442   ⟸   NM_001363513
- Peptide Label: isoform 4
- UniProtKB: A0A286YF11 (UniProtKB/TrEMBL),   A0A0U1RRK1 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000381745   ⟸   ENST00000398761
RefSeq Acc Id: ENSP00000381747   ⟸   ENST00000398763
RefSeq Acc Id: ENSP00000489563   ⟸   ENST00000635239
RefSeq Acc Id: ENSP00000354415   ⟸   ENST00000361114
RefSeq Acc Id: ENSP00000402470   ⟸   ENST00000418483
RefSeq Acc Id: ENSP00000493232   ⟸   ENST00000642044
RefSeq Acc Id: ENSP00000474192   ⟸   ENST00000603011
RefSeq Acc Id: ENSP00000474775   ⟸   ENST00000604238
RefSeq Acc Id: ENSP00000474809   ⟸   ENST00000489666
RefSeq Acc Id: ENSP00000432492   ⟸   ENST00000476605
RefSeq Acc Id: XP_047280397   ⟸   XM_047424441
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047280396   ⟸   XM_047424440
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220457   ⟸   XM_054364482
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054220458   ⟸   XM_054364483
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220459   ⟸   XM_054364484
- Peptide Label: isoform X3
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BPX6-F1-model_v2 AlphaFold Q9BPX6 1-476 view protein structure

Promoters
RGD ID:7217819
Promoter ID:EPDNEW_H14655
Type:initiation region
Name:MICU1_1
Description:mitochondrial calcium uptake 1
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
GRCh381072,626,079 - 72,626,139EPDNEW
RGD ID:6787454
Promoter ID:HG_KWN:9994
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:ENST00000398761,   ENST00000398763,   ENST00000398765,   ENST00000401998,   NM_006077,   OTTHUMT00000048587,   UC001JTB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361074,055,606 - 74,056,106 (-)MPROMDB
RGD ID:6850618
Promoter ID:EP73103
Type:initiation region
Name:HS_CBARA1
Description:Calcium binding atopy-related autoantigen 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361074,055,843 - 74,055,903EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1530 AgrOrtholog
COSMIC MICU1 COSMIC
Ensembl Genes ENSG00000107745 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361114 ENTREZGENE
  ENST00000361114.10 UniProtKB/Swiss-Prot
  ENST00000398763.8 UniProtKB/Swiss-Prot
  ENST00000418483 ENTREZGENE
  ENST00000418483.6 UniProtKB/Swiss-Prot
  ENST00000476605.7 UniProtKB/TrEMBL
  ENST00000489666.2 UniProtKB/TrEMBL
  ENST00000603011.5 UniProtKB/TrEMBL
  ENST00000604238.2 UniProtKB/TrEMBL
  ENST00000635239.1 UniProtKB/TrEMBL
  ENST00000642044 ENTREZGENE
  ENST00000642044.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107745 GTEx
HGNC ID HGNC:1530 ENTREZGENE
Human Proteome Map MICU1 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MICU1/2/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10367 UniProtKB/Swiss-Prot
NCBI Gene 10367 ENTREZGENE
OMIM 605084 OMIM
PANTHER CALCIUM UPTAKE PROTEIN 1, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12294 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26110 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RRK1 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YF11 ENTREZGENE, UniProtKB/TrEMBL
  A8MV96 ENTREZGENE
  B3KN20 ENTREZGENE
  B4DJH9 ENTREZGENE
  B4DPI1 ENTREZGENE
  B5MBY3 ENTREZGENE
  D3YTJ3 ENTREZGENE
  E9PQV6_HUMAN UniProtKB/TrEMBL
  MICU1_HUMAN UniProtKB/Swiss-Prot
  O75785 ENTREZGENE
  Q9BPX6 ENTREZGENE
  Q9H9N6 ENTREZGENE
  Q9UFX0 ENTREZGENE
  S4R3D7_HUMAN UniProtKB/TrEMBL
  S4R3V1_HUMAN UniProtKB/TrEMBL
  S4R3W3_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8MV96 UniProtKB/Swiss-Prot
  B3KN20 UniProtKB/Swiss-Prot
  B4DJH9 UniProtKB/Swiss-Prot
  B4DPI1 UniProtKB/Swiss-Prot
  B5MBY3 UniProtKB/Swiss-Prot
  D3YTJ3 UniProtKB/Swiss-Prot
  O75785 UniProtKB/Swiss-Prot
  Q9H9N6 UniProtKB/Swiss-Prot
  Q9UFX0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 MICU1  mitochondrial calcium uptake 1  CBARA1  calcium binding atopy-related autoantigen 1  Symbol and/or name change 5135510 APPROVED