MALL (mal, T cell differentiation protein like) - Rat Genome Database
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Gene: MALL (mal, T cell differentiation protein like) Homo sapiens
Analyze
Symbol: MALL
Name: mal, T cell differentiation protein like
RGD ID: 1342796
HGNC Page HGNC
Description: Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Localizes to several cellular components, including Golgi membrane; clathrin-coated vesicle; and membrane raft.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BENE; mal, T-cell differentiation protein like; mal, T-cell differentiation protein-like; MAL-like protein; MGC4419
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100132330   MALLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2110,083,870 - 110,116,022 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2110,083,870 - 110,116,566 (-)EnsemblGRCh38hg38GRCh38
GRCh382110,083,870 - 110,118,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,841,447 - 110,874,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,198,736 - 110,230,937 (-)NCBINCBI36hg18NCBI36
Celera2104,933,285 - 104,965,980 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,981,751 - 104,014,500 (-)NCBIHuRef
CHM1_12110,839,647 - 110,878,456 (-)NCBICHM1_1
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

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1294831   PMID:7622049   PMID:9168137   PMID:9326933   PMID:9361039   PMID:11294831   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16341674   PMID:18305945  
PMID:21873635   PMID:24623722   PMID:25401970   PMID:25416956   PMID:25496667   PMID:31515488   PMID:31980649   PMID:32296183  


Genomics

Comparative Map Data
MALL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2110,083,870 - 110,116,022 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2110,083,870 - 110,116,566 (-)EnsemblGRCh38hg38GRCh38
GRCh382110,083,870 - 110,118,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,841,447 - 110,874,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,198,736 - 110,230,937 (-)NCBINCBI36hg18NCBI36
Celera2104,933,285 - 104,965,980 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,981,751 - 104,014,500 (-)NCBIHuRef
CHM1_12110,839,647 - 110,878,456 (-)NCBICHM1_1
Mall
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392127,546,310 - 127,571,817 (-)NCBIGRCm39mm39
GRCm382127,704,386 - 127,730,772 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,704,386 - 127,729,932 (-)EnsemblGRCm38mm10GRCm38
MGSCv372127,530,126 - 127,555,633 (-)NCBIGRCm37mm9NCBIm37
MGSCv362127,395,831 - 127,421,338 (-)NCBImm8
Celera2128,940,723 - 128,964,505 (-)NCBICelera
Cytogenetic Map2F1NCBI
Mall
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.03120,272,583 - 120,307,090 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3120,272,583 - 120,306,551 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03127,027,427 - 127,060,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43115,230,798 - 115,253,566 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13115,136,370 - 115,159,139 (-)NCBI
Celera3113,762,760 - 113,785,416 (-)NCBICelera
Cytogenetic Map3q36NCBI
Mall
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554703,313,623 - 3,343,505 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554703,313,152 - 3,344,950 (+)NCBIChiLan1.0ChiLan1.0
MALL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A111,584,239 - 111,618,382 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A111,584,239 - 111,618,382 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A91,608,799 - 91,643,096 (+)NCBIMhudiblu_PPA_v0panPan3
MALL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1735,037,177 - 35,064,159 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11735,035,900 - 35,065,332 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mall
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004937185114,823 - 153,595 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MALL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1346,280,331 - 46,315,773 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MALL
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,480,233 - 13,515,392 (-)NCBI
ChlSab1.1 Ensembl1413,480,232 - 13,513,287 (-)Ensembl
Mall
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247491,795,238 - 1,820,900 (+)NCBI

Position Markers
RH79121  
Human AssemblyChrPosition (strand)SourceJBrowse
Build 362110,198,802 - 110,198,947RGDNCBI36
Celera2104,965,769 - 104,965,914RGD
Cytogenetic Map2q13UniSTS
RH122303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372111,043,300 - 111,043,503UniSTSGRCh37
GRCh372110,843,027 - 110,843,230UniSTSGRCh37
Build 362110,200,316 - 110,200,519RGDNCBI36
Celera2104,964,197 - 104,964,400RGD
Cytogenetic Map2q13UniSTS
HuRef2103,983,331 - 103,983,534UniSTS
BENE_8767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372111,044,158 - 111,044,986UniSTSGRCh37
GRCh372110,841,544 - 110,842,372UniSTSGRCh37
Build 362110,198,833 - 110,199,661RGDNCBI36
Celera2104,965,055 - 104,965,883RGD
HuRef2103,981,848 - 103,982,676UniSTS
SHGC-62016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372111,044,782 - 111,044,978UniSTSGRCh37
GRCh372110,841,552 - 110,841,748UniSTSGRCh37
Build 362110,198,841 - 110,199,037RGDNCBI36
Celera2104,965,679 - 104,965,875RGD
Cytogenetic Map2q13UniSTS
HuRef2103,981,856 - 103,982,052UniSTS
GeneMap99-GB4 RH Map2389.85UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1489
Count of miRNA genes:670
Interacting mature miRNAs:745
Transcripts:ENST00000272462, ENST00000424988, ENST00000427178
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 3
Medium 415 2 117 77 102 53 155 5 18 176 312 407 37 6 66 1
Low 1711 1848 908 276 333 154 3352 1259 851 161 830 1148 124 1 1187 1932 2 2
Below cutoff 311 800 681 252 742 239 837 923 2681 79 302 51 13 11 783 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000272462   ⟹   ENSP00000272462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,083,870 - 110,115,822 (-)Ensembl
RefSeq Acc Id: ENST00000424988   ⟹   ENSP00000394792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,085,712 - 110,115,821 (-)Ensembl
RefSeq Acc Id: ENST00000427178   ⟹   ENSP00000400518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,085,023 - 110,116,022 (-)Ensembl
RefSeq Acc Id: NM_001371559   ⟹   NP_001358488
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,083,870 - 110,118,139 (-)NCBI
RefSeq Acc Id: NM_001371560   ⟹   NP_001358489
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,083,870 - 110,115,822 (-)NCBI
RefSeq Acc Id: NM_005434   ⟹   NP_005425
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,083,870 - 110,115,822 (-)NCBI
GRCh372110,841,447 - 110,874,143 (-)RGD
Build 362110,198,736 - 110,230,937 (-)NCBI Archive
Celera2104,933,285 - 104,965,980 (+)RGD
HuRef2103,981,751 - 104,014,500 (-)NCBI
CHM1_12110,839,647 - 110,878,456 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005425   ⟸   NM_005434
- Peptide Label: isoform 1
- UniProtKB: Q13021 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001358488   ⟸   NM_001371559
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001358489   ⟸   NM_001371560
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000394792   ⟸   ENST00000424988
RefSeq Acc Id: ENSP00000400518   ⟸   ENST00000427178
RefSeq Acc Id: ENSP00000272462   ⟸   ENST00000272462
Protein Domains
MARVEL

Promoters
RGD ID:6861312
Promoter ID:EPDNEW_H3821
Type:initiation region
Name:MALL_1
Description:mal, T-cell differentiation protein like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3822  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,115,819 - 110,115,879EPDNEW
RGD ID:6861314
Promoter ID:EPDNEW_H3822
Type:initiation region
Name:MALL_2
Description:mal, T-cell differentiation protein like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,116,060 - 110,116,120EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q13(chr2:110104900-110321480)x1 copy number loss See cases [RCV000133908] Chr2:110104900..110321480 [GRCh38]
Chr2:110862477..111079057 [GRCh37]
Chr2:110219766..110513555 [NCBI36]
Chr2:2q13
benign
Single allele deletion Nephronophthisis 1 [RCV000529276] Chr2:110095383..110217525 [GRCh38]
Chr2:110852960..110975102 [GRCh37]
Chr2:2q13
pathogenic
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000050264] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0 copy number loss See cases [RCV000133583] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
pathogenic|benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104900-110201550)x3 copy number gain See cases [RCV000050451] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain Autism [RCV000050514]|See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025659-110207160)x1 copy number loss See cases [RCV000050358] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025659-110371270)x0 copy number loss See cases [RCV000051262] Chr2:110025659..110371270 [GRCh38]
Chr2:110783236..111128847 [GRCh37]
Chr2:110140525..110563384 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q13(chr2:109936618-110452159)x1 copy number loss See cases [RCV000053606] Chr2:109936618..110452159 [GRCh38]
Chr2:110694195..111209736 [GRCh37]
Chr2:110051484..110644273 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084138-110212693)x1 copy number loss See cases [RCV000053607] Chr2:110084138..110212693 [GRCh38]
Chr2:110841715..110970270 [GRCh37]
Chr2:110199004..110327559 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084138-110611314)x1 copy number loss See cases [RCV000053608] Chr2:110084138..110611314 [GRCh38]
Chr2:110841715..111368891 [GRCh37]
Chr2:110199004..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084194-110212693)x1 copy number loss See cases [RCV000053609] Chr2:110084194..110212693 [GRCh38]
Chr2:110841771..110970270 [GRCh37]
Chr2:110199060..110327559 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110095383-110211318)x1 copy number loss See cases [RCV000053610] Chr2:110095383..110211318 [GRCh38]
Chr2:110852960..110968895 [GRCh37]
Chr2:110210249..110326184 [NCBI36]
Chr2:2q13
benign
NM_005434.4(MALL):c.389C>T (p.Ser130Leu) single nucleotide variant Malignant melanoma [RCV000060296] Chr2:110087582 [GRCh38]
Chr2:110845159 [GRCh37]
Chr2:110202448 [NCBI36]
Chr2:2q13
not provided
GRCh38/hg38 2q13(chr2:110104900-110207160)x1 copy number loss See cases [RCV000050930] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025659-110207160)x3 copy number gain See cases [RCV000133827] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:109623720-110207160)x1 copy number loss See cases [RCV000133772] Chr2:109623720..110207160 [GRCh38]
Chr2:110381297..110964737 [GRCh37]
Chr2:109738586..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x3 copy number gain See cases [RCV000134229] Chr2:110104900..110209066 [GRCh38]
Chr2:110862477..110966643 [GRCh37]
Chr2:2q13
likely benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x1 copy number loss See cases [RCV000134230] Chr2:110104900..110209066 [GRCh38]
Chr2:110862477..110966643 [GRCh37]
Chr2:110219766..110323932 [NCBI36]
Chr2:2q13
benign|likely benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110076063-110257869)x3 copy number gain See cases [RCV000134234] Chr2:110076063..110257869 [GRCh38]
Chr2:110833640..111015446 [GRCh37]
Chr2:110190929..110348650 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:109959903-110360538)x3 copy number gain See cases [RCV000134235] Chr2:109959903..110360538 [GRCh38]
Chr2:110717480..111118115 [GRCh37]
Chr2:110074769..110552653 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104897-110207198)x3 copy number gain See cases [RCV000134039] Chr2:110104897..110207198 [GRCh38]
Chr2:110862474..110964775 [GRCh37]
Chr2:110219763..110322064 [NCBI36]
Chr2:2q13
conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104897-110207198)x1 copy number loss See cases [RCV000134041] Chr2:110104897..110207198 [GRCh38]
Chr2:110862474..110964775 [GRCh37]
Chr2:110219763..110322064 [NCBI36]
Chr2:2q13
benign|likely benign|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104897-110321488)x1 copy number loss See cases [RCV000134789] Chr2:110104897..110321488 [GRCh38]
Chr2:110862474..111079065 [GRCh37]
Chr2:110219763..110513563 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025674-110321488)x3 copy number gain See cases [RCV000134815] Chr2:110025674..110321488 [GRCh38]
Chr2:110783251..111079065 [GRCh37]
Chr2:110140540..110513563 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x1 copy number loss See cases [RCV000135500] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x3 copy number gain See cases [RCV000135509] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x1 copy number loss See cases [RCV000135460] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13
conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110025459-110207301)x3 copy number gain See cases [RCV000135422] Chr2:110025459..110207301 [GRCh38]
Chr2:110783036..110964878 [GRCh37]
Chr2:110140325..110322167 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025681-110576905)x1 copy number loss See cases [RCV000136417] Chr2:110025681..110576905 [GRCh38]
Chr2:110783258..111334482 [GRCh37]
Chr2:110140547..110811832 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q13(chr2:109975055-110576905)x3 copy number gain See cases [RCV000137971] Chr2:109975055..110576905 [GRCh38]
Chr2:110732632..111334482 [GRCh37]
Chr2:110089921..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q13(chr2:109975072-110207198)x3 copy number gain See cases [RCV000138513] Chr2:109975072..110207198 [GRCh38]
Chr2:110732649..110964775 [GRCh37]
Chr2:110089938..110322064 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110049995-110576905)x3 copy number gain See cases [RCV000138366] Chr2:110049995..110576905 [GRCh38]
Chr2:110807572..111334482 [GRCh37]
Chr2:110164861..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q13(chr2:110104897-110371270)x1 copy number loss See cases [RCV000138384] Chr2:110104897..110371270 [GRCh38]
Chr2:110862474..111128847 [GRCh37]
Chr2:110219763..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110257869)x1 copy number loss See cases [RCV000140147] Chr2:110104900..110257869 [GRCh38]
Chr2:110862477..111015446 [GRCh37]
Chr2:110219766..110348650 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q13(chr2:110025674-110207198)x3 copy number gain See cases [RCV000139567] Chr2:110025674..110207198 [GRCh38]
Chr2:110783251..110964775 [GRCh37]
Chr2:110140540..110322064 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q13(chr2:110066680-110225841)x0 copy number loss See cases [RCV000140789] Chr2:110066680..110225841 [GRCh38]
Chr2:110824257..110983418 [GRCh37]
Chr2:110181546..110340707 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q13(chr2:110076063-110209066)x1 copy number loss See cases [RCV000141046] Chr2:110076063..110209066 [GRCh38]
Chr2:110833640..110966643 [GRCh37]
Chr2:110190929..110323932 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110076063-110209066)x3 copy number gain See cases [RCV000141047] Chr2:110076063..110209066 [GRCh38]
Chr2:110833640..110966643 [GRCh37]
Chr2:2q13
benign
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q13(chr2:109975055-110207160)x1 copy number loss See cases [RCV000141492] Chr2:109975055..110207160 [GRCh38]
Chr2:110732632..110964737 [GRCh37]
Chr2:110089921..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x4 copy number gain See cases [RCV000142550] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110371270)x3 copy number gain See cases [RCV000148275] Chr2:110104900..110371270 [GRCh38]
Chr2:110862477..111128847 [GRCh37]
Chr2:110219766..110563384 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x3 copy number gain See cases [RCV000148241] Chr2:110104900..110201550 [GRCh38]
Chr2:110862477..110959127 [GRCh37]
Chr2:110219766..110316416 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x1 copy number loss See cases [RCV000148234] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0 copy number loss See cases [RCV000148115] Chr2:110104900..110207160 [GRCh38]
Chr2:110862477..110964737 [GRCh37]
Chr2:110219766..110322026 [NCBI36]
Chr2:2q13
pathogenic
GRCh38/hg38 2q13(chr2:110025659-110207160)x1 copy number loss See cases [RCV000148185] Chr2:110025659..110207160 [GRCh38]
Chr2:110783236..110964737 [GRCh37]
Chr2:110140525..110322026 [NCBI36]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110504318-110973419)x1 copy number loss See cases [RCV000449066] Chr2:110504318..110973419 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3 copy number gain not provided [RCV000762743] Chr2:109300532..110862536 [GRCh37]
Chr2:2q12.3-13
uncertain significance
Single allele duplication Autism spectrum disorder [RCV000208724] Chr2:109696399..110327308 [GRCh38]
Chr2:110453976..111084885 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 copy number loss See cases [RCV000240485] Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3
pathogenic
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 copy number loss See cases [RCV000240490] Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1
pathogenic
GRCh37/hg19 2q13(chr2:110852875-111398472)x1 copy number loss See cases [RCV000598664] Chr2:110852875..111398472 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110824957-110983703) copy number loss Hereditary liability to pressure palsies [RCV000767555] Chr2:110824957..110983703 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110849222-110985515)x3 copy number gain not provided [RCV000753086] Chr2:110849222..110985515 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110852875-110982530)x3 copy number gain not provided [RCV000753089] Chr2:110852875..110982530 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110873834-111365996)x1 copy number loss See cases [RCV000449334] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980295)x1 copy number loss See cases [RCV000449362] Chr2:110873834..110980295 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873467-110966643)x1 copy number loss See cases [RCV000449465] Chr2:110873467..110966643 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss See cases [RCV000449482] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110873834-110983417)x3 copy number gain See cases [RCV000449243] Chr2:110873834..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110983418)x1 copy number loss See cases [RCV000446820] Chr2:110504318..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110824256-110983417)x1 copy number loss See cases [RCV000447289] Chr2:110824256..110983417 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980345)x3 copy number gain See cases [RCV000446857] Chr2:110873834..110980345 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983417)x1 copy number loss See cases [RCV000446909] Chr2:110873834..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 copy number gain See cases [RCV000446992] Chr2:108526025..110876776 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q13(chr2:110496601-110983418)x3 copy number gain See cases [RCV000446128] Chr2:110496601..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110825177-110983417)x1 copy number loss See cases [RCV000446418] Chr2:110825177..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110497990-111400649)x3 copy number gain See cases [RCV000447601] Chr2:110497990..111400649 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q13(chr2:110873992-110966643)x1 copy number loss See cases [RCV000446169] Chr2:110873992..110966643 [GRCh37]
Chr2:2q13
benign|likely benign
GRCh37/hg19 2q13(chr2:110873834-110980107)x3 copy number gain See cases [RCV000447626] Chr2:110873834..110980107 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110825177-110983418)x1 copy number loss See cases [RCV000445735] Chr2:110825177..110983418 [GRCh37]
Chr2:2q13
uncertain significance
Single allele deletion Cone dystrophy [RCV000505010] Chr2:110095946..110226893 [GRCh38]
Chr2:110853523..110984470 [GRCh37]
Chr2:2q13
likely pathogenic
GRCh37/hg19 2q13(chr2:110504318-111365996)x1 copy number loss See cases [RCV000445912] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110504318-111370025)x3 copy number gain See cases [RCV000446018] Chr2:110504318..111370025 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983418)x3 copy number gain See cases [RCV000447874] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110980108)x1 copy number loss See cases [RCV000448720] Chr2:110504318..110980108 [GRCh37]
Chr2:2q13
likely pathogenic
GRCh37/hg19 2q13(chr2:110824256-110983417)x3 copy number gain See cases [RCV000448881] Chr2:110824256..110983417 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110498141-110983418)x3 copy number gain See cases [RCV000448038] Chr2:110498141..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-111365996)x3 copy number gain See cases [RCV000447941] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980346)x3 copy number gain See cases [RCV000448568] Chr2:110873834..110980346 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-111365996)x3 copy number gain See cases [RCV000448330] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q13(chr2:110862477-110980401)x1 copy number loss not provided [RCV000585101] Chr2:110862477..110980401 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2q13(chr2:110504318-111622976)x3 copy number gain not provided [RCV000682117] Chr2:110504318..111622976 [GRCh37]
Chr2:2q13
likely benign
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q13(chr2:110844047-110985515)x3 copy number gain not provided [RCV000753085] Chr2:110844047..110985515 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110873834-110988707)x1 copy number loss not provided [RCV000845667] Chr2:110873834..110988707 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110852875-110989364)x3 copy number gain not provided [RCV000753090] Chr2:110852875..110989364 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110843108-110982530)x1 copy number loss not provided [RCV000753083] Chr2:110843108..110982530 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110852875-110980346)x3 copy number gain not provided [RCV000753087] Chr2:110852875..110980346 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110852875-110982530)x1 copy number loss not provided [RCV000753088] Chr2:110852875..110982530 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110852875-111183762)x1 copy number loss not provided [RCV000753091] Chr2:110852875..111183762 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q13(chr2:110844047-110982530)x1 copy number loss not provided [RCV000753084] Chr2:110844047..110982530 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110854766-110990943)x3 copy number gain not provided [RCV000740560] Chr2:110854766..110990943 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110863095-110985515)x3 copy number gain not provided [RCV000740561] Chr2:110863095..110985515 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q13(chr2:110863095-111183762)x1 copy number loss not provided [RCV000740562] Chr2:110863095..111183762 [GRCh37]
Chr2:2q13
likely benign
NC_000002.12:g.(?_110091603)_(110161697_?)dup duplication Nephronophthisis [RCV001033031] Chr2:110849180..110919274 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845687] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110862477-110983703) copy number loss Nephronophthisis 1 [RCV000767832] Chr2:110862477..110983703 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845727] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845741] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845789] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848964] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849030] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849448] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849876] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980295)x1 copy number loss not provided [RCV000848739] Chr2:110863827..110980295 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848384] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849111] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849128] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849918] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849924] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848137] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849645] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849935] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849728] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848529] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849223] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849795] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110852804-110980919)x1 copy number loss not provided [RCV000849812] Chr2:110852804..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847554] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847587] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846484] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846488] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846753] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846867] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846992] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1 copy number loss not provided [RCV000845995] Chr2:110873834..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000847401] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110986712)x1 copy number loss not provided [RCV000846085] Chr2:110863827..110986712 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846994] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846258] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845935] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849131] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss not provided [RCV000848197] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849179] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848731] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1 copy number loss not provided [RCV000848826] Chr2:110873834..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847965] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849807] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110973315)x1 copy number loss not provided [RCV000846368] Chr2:110873834..110973315 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000848410] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849370] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847227] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849991] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110975253)x1 copy number loss not provided [RCV000849996] Chr2:110873834..110975253 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000847402] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847521] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849509] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000849554] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000850026] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1 copy number loss not provided [RCV000846093] Chr2:110873834..110983418 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000846001] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845665] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845821] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847496] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1 copy number loss not provided [RCV000847732] Chr2:110863827..110982217 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980919)x1 copy number loss not provided [RCV000847199] Chr2:110873834..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000847243] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000845605] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1 copy number loss not provided [RCV000845702] Chr2:110863827..110980919 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1 copy number loss not provided [RCV000845626] Chr2:110871508..110980919 [GRCh37]
Chr2:2q13
pathogenic
NC_000002.12:g.(?_110091603)_(110204968_?)del deletion Nephronophthisis [RCV001031333] Chr2:110849180..110962545 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6818 AgrOrtholog
COSMIC MALL COSMIC
Ensembl Genes ENSG00000144063 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000272462 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394792 UniProtKB/TrEMBL
  ENSP00000400518 UniProtKB/TrEMBL
Ensembl Transcript ENST00000272462 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424988 UniProtKB/TrEMBL
  ENST00000427178 UniProtKB/TrEMBL
GTEx ENSG00000144063 GTEx
HGNC ID HGNC:6818 ENTREZGENE
Human Proteome Map MALL Human Proteome Map
InterPro MAL UniProtKB/Swiss-Prot
  Marvel UniProtKB/Swiss-Prot
KEGG Report hsa:7851 UniProtKB/Swiss-Prot
NCBI Gene 7851 ENTREZGENE
OMIM 602022 OMIM
Pfam MARVEL UniProtKB/Swiss-Prot
PharmGKB PA30567 PharmGKB
PRINTS MALPROTEIN UniProtKB/Swiss-Prot
PROSITE MARVEL UniProtKB/Swiss-Prot
UniGene Hs.185055 ENTREZGENE
UniProt C9IZ55_HUMAN UniProtKB/TrEMBL
  F8WE57_HUMAN UniProtKB/TrEMBL
  MALL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KWR6 UniProtKB/Swiss-Prot
  Q9BTU0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-19 MALL  mal, T cell differentiation protein like    mal, T-cell differentiation protein like  Symbol and/or name change 5135510 APPROVED
2016-05-10 MALL  mal, T-cell differentiation protein like    mal, T-cell differentiation protein-like  Symbol and/or name change 5135510 APPROVED
2011-09-01 MALL  mal, T-cell differentiation protein-like  MALL  mal, T-cell differentiation protein-like  Symbol and/or name change 5135510 APPROVED