MIEF2 (mitochondrial elongation factor 2) - Rat Genome Database

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Gene: MIEF2 (mitochondrial elongation factor 2) Homo sapiens
Analyze
Symbol: MIEF2
Name: mitochondrial elongation factor 2
RGD ID: 1347197
HGNC Page HGNC:17920
Description: Involved in several processes, including dynamin family protein polymerization involved in mitochondrial fission; positive regulation of mitochondrial fission; and positive regulation of protein targeting to membrane. Located in mitochondrial outer membrane. Implicated in combined oxidative phosphorylation deficiency 49.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COXPD49; MGC23130; MID49; mitochondrial dynamic protein MID49; mitochondrial dynamic protein of 49 kDa; mitochondrial dynamics protein MID49; mitochondrial dynamics protein of 49 kDa; mitochondrial dynamics proteins of 49 kDa; SMCR7; Smith-Magenis syndrome chromosomal region candidate gene 7 protein; Smith-Magenis syndrome chromosome region, candidate 7
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
GRCh381718,260,662 - 18,266,552 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1718,260,597 - 18,266,552 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,163,976 - 18,169,866 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,104,594 - 18,109,820 (+)NCBINCBI36Build 36hg18NCBI36
Build 341718,105,148 - 18,109,818NCBI
Celera1719,104,964 - 19,110,211 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,917,104 - 17,922,351 (+)NCBIHuRef
CHM1_11718,172,628 - 18,177,875 (+)NCBICHM1_1
T2T-CHM13v2.01718,207,468 - 18,213,358 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
mitochondrial outer membrane  (IBA,IDA,IEA)
mitochondrion  (IDA,IEA)
peroxisome  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mitochondria dynamism: of shape, transport and cell migration. da Silva AF, etal., Cell Mol Life Sci. 2014 Jun;71(12):2313-24. doi: 10.1007/s00018-014-1557-8. Epub 2014 Jan 18.
2. The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery. Palmer CS, etal., Cell Signal. 2011 Oct;23(10):1534-45. doi: 10.1016/j.cellsig.2011.05.021. Epub 2011 Jun 13.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11997338   PMID:12477932   PMID:14702039   PMID:15517828   PMID:16189514   PMID:16344560   PMID:16713569   PMID:19060904   PMID:21508961   PMID:21873635   PMID:23283981   PMID:23530241  
PMID:23880462   PMID:23921378   PMID:25416956   PMID:26564796   PMID:26903540   PMID:27660309   PMID:28137654   PMID:29361167   PMID:29431643   PMID:29464060   PMID:29899447   PMID:31586073  
PMID:32068312   PMID:32236517   PMID:32296183   PMID:32877691   PMID:33317572   PMID:33414447   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
MIEF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,260,662 - 18,266,552 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1718,260,597 - 18,266,552 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,163,976 - 18,169,866 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,104,594 - 18,109,820 (+)NCBINCBI36Build 36hg18NCBI36
Build 341718,105,148 - 18,109,818NCBI
Celera1719,104,964 - 19,110,211 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,917,104 - 17,922,351 (+)NCBIHuRef
CHM1_11718,172,628 - 18,177,875 (+)NCBICHM1_1
T2T-CHM13v2.01718,207,468 - 18,213,358 (+)NCBIT2T-CHM13v2.0
Mief2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,619,224 - 60,623,777 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,619,224 - 60,623,777 (+)EnsemblGRCm39 Ensembl
GRCm381160,728,398 - 60,732,951 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,728,398 - 60,732,951 (+)EnsemblGRCm38mm10GRCm38
MGSCv371160,541,900 - 60,546,453 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,544,593 - 60,549,146 (+)NCBIMGSCv36mm8
Celera1164,989,255 - 64,993,808 (+)NCBICelera
Cytogenetic Map11B2NCBI
Mief2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21045,408,055 - 45,414,144 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1045,408,082 - 45,414,144 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1050,108,661 - 50,114,725 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01049,599,049 - 49,605,113 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01045,102,646 - 45,108,710 (+)NCBIRnor_WKY
Rnor_6.01046,969,531 - 46,975,572 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1046,972,038 - 46,974,806 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01046,742,493 - 46,748,566 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41046,875,425 - 46,880,362 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1044,663,259 - 44,669,300 (+)NCBICelera
Cytogenetic Map10q22NCBI
Mief2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547811,057,462 - 11,061,852 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547811,056,489 - 11,063,142 (-)NCBIChiLan1.0ChiLan1.0
MIEF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11737,944,215 - 37,949,451 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1737,944,215 - 37,949,451 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01732,805,453 - 32,810,668 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MIEF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1541,293,922 - 41,303,031 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl541,295,915 - 41,300,589 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha541,433,114 - 41,442,515 (-)NCBIDog10K_Boxer_Tasha
Mief2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560261,063,879 - 61,069,509 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367411,797,717 - 1,803,367 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MIEF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,466,197 - 60,475,056 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,461,373 - 60,475,695 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MIEF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,301,133 - 17,306,791 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1617,301,629 - 17,308,780 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660593,595,731 - 3,601,001 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mief2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248493,207,606 - 3,212,671 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248493,207,698 - 3,213,121 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
SMCR7__6859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,168,533 - 18,169,228UniSTSGRCh37
Build 361718,109,258 - 18,109,953RGDNCBI36
Celera1719,109,649 - 19,110,344RGD
HuRef1717,921,789 - 17,922,484UniSTS
D11S2875  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10p15.2UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p22.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4716
Count of miRNA genes:1173
Interacting mature miRNAs:1495
Transcripts:ENST00000323019, ENST00000395703, ENST00000395704, ENST00000395706, ENST00000577216, ENST00000578174, ENST00000578621, ENST00000579341, ENST00000583745
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 254 725 1032 110 56 39 1631 752 1106 250 738 865 84 1 9 1297 1
Low 2184 2241 693 513 1873 425 2726 1441 2628 169 722 748 91 1195 1491 5 2
Below cutoff 1 25 1 1 22 1 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000323019   ⟹   ENSP00000323591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,662 - 18,266,552 (+)Ensembl
RefSeq Acc Id: ENST00000395703   ⟹   ENSP00000379055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,604 - 18,263,515 (+)Ensembl
RefSeq Acc Id: ENST00000395704   ⟹   ENSP00000379056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,597 - 18,266,204 (+)Ensembl
RefSeq Acc Id: ENST00000395706   ⟹   ENSP00000379057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,261,110 - 18,265,781 (+)Ensembl
RefSeq Acc Id: ENST00000577216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,616 - 18,264,127 (+)Ensembl
RefSeq Acc Id: ENST00000578174   ⟹   ENSP00000463015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,597 - 18,263,546 (+)Ensembl
RefSeq Acc Id: ENST00000578621   ⟹   ENSP00000464017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,645 - 18,263,802 (+)Ensembl
RefSeq Acc Id: ENST00000579341   ⟹   ENSP00000465801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,661 - 18,263,881 (+)Ensembl
RefSeq Acc Id: ENST00000583745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1718,260,662 - 18,263,181 (+)Ensembl
RefSeq Acc Id: NM_001144900   ⟹   NP_001138372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,260,662 - 18,266,237 (+)NCBI
GRCh371718,163,848 - 18,169,095 (+)RGD
Celera1719,104,964 - 19,110,211 (+)RGD
HuRef1717,917,104 - 17,922,351 (+)ENTREZGENE
CHM1_11718,172,628 - 18,177,875 (+)NCBI
T2T-CHM13v2.01718,207,468 - 18,213,043 (+)NCBI
Sequence:
RefSeq Acc Id: NM_139162   ⟹   NP_631901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,260,662 - 18,266,552 (+)NCBI
GRCh371718,163,848 - 18,169,095 (+)RGD
Build 361718,104,594 - 18,109,818 (+)NCBI Archive
Celera1719,104,964 - 19,110,211 (+)RGD
HuRef1717,917,104 - 17,922,351 (+)ENTREZGENE
CHM1_11718,172,628 - 18,177,875 (+)NCBI
T2T-CHM13v2.01718,207,468 - 18,213,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_148886   ⟹   NP_683684
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,261,110 - 18,266,552 (+)NCBI
GRCh371718,163,848 - 18,169,095 (+)RGD
Build 361718,105,149 - 18,109,820 (+)NCBI Archive
Celera1719,104,964 - 19,110,211 (+)RGD
HuRef1717,917,104 - 17,922,351 (+)ENTREZGENE
CHM1_11718,173,204 - 18,177,875 (+)NCBI
T2T-CHM13v2.01718,207,916 - 18,213,358 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024190   ⟹   XP_016879679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,260,662 - 18,266,552 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001138372   ⟸   NM_001144900
- Peptide Label: isoform 3
- UniProtKB: Q96C03 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_631901   ⟸   NM_139162
- Peptide Label: isoform 1
- UniProtKB: Q96N07 (UniProtKB/Swiss-Prot),   Q96C03 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_683684   ⟸   NM_148886
- Peptide Label: isoform 2
- UniProtKB: Q96C03 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879679   ⟸   XM_017024190
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000323591   ⟸   ENST00000323019
RefSeq Acc Id: ENSP00000464017   ⟸   ENST00000578621
RefSeq Acc Id: ENSP00000463015   ⟸   ENST00000578174
RefSeq Acc Id: ENSP00000465801   ⟸   ENST00000579341
RefSeq Acc Id: ENSP00000379057   ⟸   ENST00000395706
RefSeq Acc Id: ENSP00000379056   ⟸   ENST00000395704
RefSeq Acc Id: ENSP00000379055   ⟸   ENST00000395703

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96C03-F1-model_v2 AlphaFold Q96C03 1-454 view protein structure

Promoters
RGD ID:6794055
Promoter ID:HG_KWN:25252
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395703,   NM_148886,   OTTHUMT00000132060,   UC002GSU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361718,104,584 - 18,105,084 (+)MPROMDB
RGD ID:7234211
Promoter ID:EPDNEW_H22850
Type:multiple initiation site
Name:MIEF2_1
Description:mitochondrial elongation factor 2
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
GRCh381718,261,081 - 18,261,141EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 copy number gain See cases [RCV000050888] Chr17:16879232..18970941 [GRCh38]
Chr17:16782546..18874254 [GRCh37]
Chr17:16723271..18814979 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 copy number loss See cases [RCV000050513] Chr17:15776915..18771753 [GRCh38]
Chr17:15680229..18675066 [GRCh37]
Chr17:15620954..18615791 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3 copy number gain See cases [RCV000052477] Chr17:17667721..18301995 [GRCh38]
Chr17:17571035..18205309 [GRCh37]
Chr17:17511760..18146034 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 copy number loss See cases [RCV000054329] Chr17:15952071..18362819 [GRCh38]
Chr17:15855385..18266133 [GRCh37]
Chr17:15796110..18206858 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 copy number loss See cases [RCV000054333] Chr17:16117885..18362819 [GRCh38]
Chr17:16021199..18266133 [GRCh37]
Chr17:15961924..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 copy number loss See cases [RCV000054339] Chr17:16817557..18362819 [GRCh38]
Chr17:16720871..18266133 [GRCh37]
Chr17:16661596..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 copy number loss See cases [RCV000054359] Chr17:17150076..18415759 [GRCh38]
Chr17:17053390..18319073 [GRCh37]
Chr17:16994115..18259798 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1 copy number loss See cases [RCV000135862] Chr17:17788412..18333372 [GRCh38]
Chr17:17691726..18236686 [GRCh37]
Chr17:17632451..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 copy number loss See cases [RCV000135774] Chr17:16734588..18333372 [GRCh38]
Chr17:16637902..18236686 [GRCh37]
Chr17:16578627..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 copy number gain See cases [RCV000137171] Chr17:15210400..18280816 [GRCh38]
Chr17:15113717..18184130 [GRCh37]
Chr17:15054442..18124855 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2
pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3 copy number gain See cases [RCV000138572] Chr17:17331511..19017784 [GRCh38]
Chr17:17234825..18921097 [GRCh37]
Chr17:17175550..18861822 [NCBI36]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 copy number gain See cases [RCV000139243] Chr17:17748602..18551638 [GRCh38]
Chr17:17651916..18454952 [GRCh37]
Chr17:17592641..18395677 [NCBI36]
Chr17:17p11.2
likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 copy number loss See cases [RCV000141729] Chr17:17067833..19019419 [GRCh38]
Chr17:16971147..18922732 [GRCh37]
Chr17:16911872..18863457 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3 copy number gain See cases [RCV000142462] Chr17:18077127..18521388 [GRCh38]
Chr17:17980441..18424702 [GRCh37]
Chr17:17921166..18365427 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 copy number gain See cases [RCV000142169] Chr17:15552362..19014200 [GRCh38]
Chr17:15455676..18917513 [GRCh37]
Chr17:15396401..18858238 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 copy number loss See cases [RCV000142986] Chr17:16734588..18834703 [GRCh38]
Chr17:16637902..18738016 [GRCh37]
Chr17:16578627..18678741 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1 copy number loss See cases [RCV000449355] Chr17:16651292..18722974 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17262786-18250574)x3 copy number gain See cases [RCV000447624] Chr17:17262786..18250574 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 copy number gain See cases [RCV000448097] Chr17:16772264..20433502 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 copy number loss See cases [RCV000510506] Chr17:16745600..20396173 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 copy number gain See cases [RCV000510267] Chr17:16761814..20339795 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 copy number loss See cases [RCV000511412] Chr17:16727264..20413564 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 copy number loss See cases [RCV000511915] Chr17:16772264..20297091 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 copy number loss See cases [RCV000511460] Chr17:16741411..20410218 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 copy number gain See cases [RCV000511433] Chr17:16738161..20338182 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 copy number loss See cases [RCV000511111] Chr17:16727264..20395889 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 copy number gain See cases [RCV000511042] Chr17:16651292..20437532 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16842163-20217777) copy number gain Delayed speech and language development [RCV000626511] Chr17:16842163..20217777 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Brachydactyly [RCV000626512] Chr17:16936603..18184130 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16782546-20294038) copy number loss Sleep disturbance [RCV000626510] Chr17:16782546..20294038 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 copy number gain See cases [RCV000512356] Chr17:16591260..20473937 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 copy number gain not provided [RCV000683900] Chr17:16761814..20292897 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 copy number loss not provided [RCV000683901] Chr17:16999980..20298979 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 copy number loss not provided [RCV000683902] Chr17:17021607..20015978 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 copy number loss not provided [RCV000683898] Chr17:16741411..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 copy number loss not provided [RCV000683897] Chr17:16727264..20310241 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 copy number loss not provided [RCV000739423] Chr17:16768248..20391959 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18150086-18167881)x3 copy number gain not provided [RCV000739424] Chr17:18150086..18167881 [GRCh37]
Chr17:17p11.2
benign
Single allele duplication Autism [RCV000754201] Chr17:16770855..20422847 [GRCh38]
Chr17:17p11.2
pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autism [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 copy number loss not provided [RCV000739417] Chr17:16660721..20417975 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1 copy number loss See cases [RCV000790581] Chr17:16908991..18322254 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16842991-20217316) copy number loss Smith-Magenis syndrome [RCV000767738] Chr17:16842991..20217316 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 copy number loss not provided [RCV001006874] Chr17:15632431..18726389 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 copy number loss not provided [RCV001259291] Chr17:16763370..20395611 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18125256-18304190)x3 copy number gain not provided [RCV001259292] Chr17:18125256..18304190 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 copy number loss not provided [RCV001259296] Chr17:15810015..18537436 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_139162.4(MIEF2):c.241C>T (p.Gln81Ter) single nucleotide variant Combined oxidative phosphorylation deficiency 49 [RCV001257152] Chr17:18263179 [GRCh38]
Chr17:18166493 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 copy number gain not provided [RCV001259290] Chr17:16761814..20330062 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17145361-20137943) copy number loss Smith-Magenis syndrome [RCV001352632] Chr17:17145361..20137943 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369) copy number gain Potocki-Lupski syndrome [RCV001352635] Chr17:16601603..20063369 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 copy number gain Potocki-Lupski syndrome [RCV001801179] Chr17:16829153..20361747 [GRCh37]
Chr17:17p11.2
pathogenic
NC_000017.10:g.(?_16842861)_(18218092_?)dup duplication not provided [RCV001949508] Chr17:16842861..18218092 [GRCh37]
Chr17:17p11.2
pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)del deletion Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 copy number loss not provided [RCV002211424] Chr17:16664739..20217378 [GRCh37]
Chr17:17p11.2
pathogenic
NM_139162.4(MIEF2):c.1028G>A (p.Arg343Gln) single nucleotide variant not provided [RCV002263082] Chr17:18264427 [GRCh38]
Chr17:18167741 [GRCh37]
Chr17:17p11.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17920 AgrOrtholog
COSMIC MIEF2 COSMIC
Ensembl Genes ENSG00000177427 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284495 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000323591 ENTREZGENE
  ENSP00000323591.4 UniProtKB/Swiss-Prot
  ENSP00000379055.4 UniProtKB/TrEMBL
  ENSP00000379056 ENTREZGENE
  ENSP00000379056.4 UniProtKB/Swiss-Prot
  ENSP00000379057 ENTREZGENE
  ENSP00000379057.2 UniProtKB/Swiss-Prot
  ENSP00000463015.1 UniProtKB/TrEMBL
  ENSP00000464017.1 UniProtKB/TrEMBL
  ENSP00000465801.1 UniProtKB/TrEMBL
  ENSP00000490984.1 UniProtKB/Swiss-Prot
  ENSP00000491002.1 UniProtKB/TrEMBL
  ENSP00000491181.1 UniProtKB/Swiss-Prot
  ENSP00000491677.1 UniProtKB/TrEMBL
  ENSP00000492195.1 UniProtKB/Swiss-Prot
  ENSP00000492291.1 UniProtKB/TrEMBL
  ENSP00000492516.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000323019 ENTREZGENE
  ENST00000323019.9 UniProtKB/Swiss-Prot
  ENST00000395703.8 UniProtKB/TrEMBL
  ENST00000395704 ENTREZGENE
  ENST00000395704.8 UniProtKB/Swiss-Prot
  ENST00000395706 ENTREZGENE
  ENST00000395706.2 UniProtKB/Swiss-Prot
  ENST00000578174.5 UniProtKB/TrEMBL
  ENST00000578621.5 UniProtKB/TrEMBL
  ENST00000579341.5 UniProtKB/TrEMBL
  ENST00000638355.1 UniProtKB/TrEMBL
  ENST00000639502.1 UniProtKB/TrEMBL
  ENST00000639927.1 UniProtKB/TrEMBL
  ENST00000640122.2 UniProtKB/Swiss-Prot
  ENST00000640339.1 UniProtKB/Swiss-Prot
  ENST00000640637.1 UniProtKB/Swiss-Prot
  ENST00000640642.1 UniProtKB/TrEMBL
GTEx ENSG00000177427 GTEx
  ENSG00000284495 GTEx
HGNC ID HGNC:17920 ENTREZGENE
Human Proteome Map MIEF2 Human Proteome Map
InterPro Mab-21_dom UniProtKB/Swiss-Prot
  MID49/MID51 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:125170 UniProtKB/Swiss-Prot
NCBI Gene 125170 ENTREZGENE
OMIM 615498 OMIM
  619024 OMIM
PANTHER PTHR16451 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mab-21 UniProtKB/Swiss-Prot
PharmGKB PA38265 PharmGKB
SMART Mab-21 UniProtKB/Swiss-Prot
UniProt A8MT25_HUMAN UniProtKB/TrEMBL
  J3KTJ4_HUMAN UniProtKB/TrEMBL
  J3QR30_HUMAN UniProtKB/TrEMBL
  K7EKV6_HUMAN UniProtKB/TrEMBL
  MID49_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96N07 ENTREZGENE
UniProt Secondary J3KPT3 UniProtKB/Swiss-Prot
  Q6ZRD4 UniProtKB/Swiss-Prot
  Q96N07 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-10-22 MIEF2  mitochondrial elongation factor 2  SMCR7  Smith-Magenis syndrome chromosome region, candidate 7  Symbol and/or name change 5135510 APPROVED