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:6818
Description: Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Located in several cellular components, including Golgi membrane; clathrin-coated vesicle; and membrane raft.
Type: protein-coding
RefSeq Status: VALIDATED
Previously 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 Orthologs
More Info more info ...
Related Pseudogenes: MALLP1   MALLP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382110,083,870 - 110,118,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2110,083,870 - 110,116,022 (-)EnsemblGRCh38hg38GRCh38
GRCh372110,841,447 - 110,875,716 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,198,736 - 110,230,937 (-)NCBINCBI36Build 36hg18NCBI36
Celera2104,933,285 - 104,965,980 (+)NCBICelera
Cytogenetic Map2q13NCBI
HuRef2103,981,751 - 104,014,500 (-)NCBIHuRef
CHM1_12110,839,647 - 110,878,456 (-)NCBICHM1_1
T2T-CHM13v2.02110,506,185 - 110,514,140 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aldehydo-D-glucose  (ISO)
amitrole  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
D-glucose  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
elemental selenium  (EXP)
folic acid  (EXP,ISO)
fonofos  (EXP)
fructose  (ISO)
furan  (ISO)
glucose  (ISO)
glycidol  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
irinotecan  (EXP)
iron dichloride  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
methimazole  (ISO)
Muraglitazar  (ISO)
ochratoxin A  (ISO)
parathion  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
terbufos  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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   PMID:33845483   PMID:33961781   PMID:36949045  


Genomics

Comparative Map Data
MALL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382110,083,870 - 110,118,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2110,083,870 - 110,116,022 (-)EnsemblGRCh38hg38GRCh38
GRCh372110,841,447 - 110,875,716 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,198,736 - 110,230,937 (-)NCBINCBI36Build 36hg18NCBI36
Celera2104,933,285 - 104,965,980 (+)NCBICelera
Cytogenetic Map2q13NCBI
HuRef2103,981,751 - 104,014,500 (-)NCBIHuRef
CHM1_12110,839,647 - 110,878,456 (-)NCBICHM1_1
T2T-CHM13v2.02110,506,185 - 110,514,140 (-)NCBIT2T-CHM13v2.0
Mall
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392127,546,310 - 127,571,817 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2127,546,306 - 127,571,852 (-)EnsemblGRCm39 Ensembl
GRCm382127,704,386 - 127,730,772 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,704,386 - 127,729,932 (-)EnsemblGRCm38mm10GRCm38
MGSCv372127,530,126 - 127,555,633 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362127,395,831 - 127,421,338 (-)NCBIMGSCv36mm8
Celera2128,940,723 - 128,964,505 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map262.08NCBI
Mall
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83135,381,180 - 135,404,136 (-)NCBIGRCr8
mRatBN7.23114,927,897 - 114,950,840 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3114,927,897 - 114,950,785 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3118,817,454 - 118,840,493 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03127,412,998 - 127,436,037 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03125,073,362 - 125,096,407 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v21217,661,087 - 17,695,935 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A17,663,847 - 17,698,712 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A91,608,799 - 91,643,096 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A111,584,239 - 111,618,382 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A111,584,239 - 111,618,382 (-)Ensemblpanpan1.1panPan2
MALL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11735,035,900 - 35,065,332 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1735,037,177 - 35,064,159 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1734,804,710 - 34,833,832 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01735,806,979 - 35,836,081 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1735,806,990 - 35,835,972 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11734,935,028 - 34,964,125 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01735,004,019 - 35,032,938 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01735,213,355 - 35,242,493 (-)NCBIUU_Cfam_GSD_1.0
Mall
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405073136,584 - 177,509 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004937185114,810 - 138,338 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004937185114,823 - 153,595 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MALL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl346,280,341 - 46,315,694 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1346,280,331 - 46,315,773 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MALL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11413,480,233 - 13,515,392 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1413,480,232 - 13,513,287 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660806,176,590 - 6,210,134 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mall
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247491,795,222 - 1,820,995 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247491,795,238 - 1,820,900 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MALL
4 total Variants

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(chr2:110504318-111365996)x1 copy number loss See cases [RCV002305676]|Tetralogy of Fallot [RCV002285057] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
pathogenic|uncertain significance
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 not specified [RCV003986326] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
uncertain significance|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 Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
Single allele deletion 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
GRCh38/hg38 2q13(chr2:110091573-110212811) copy number loss Nephronophthisis 1 [RCV003233342] Chr2:110091573..110212811 [GRCh38]
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
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q13(chr2:110862474-110983457)x1 copy number loss Psychotic disorder [RCV001290120] Chr2:110862474..110983457 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.11:g.(?_110849180)_(110962545_?)dup duplication Nephronophthisis [RCV001509954] Chr2:110849180..110962545 [GRCh37]
Chr2:2q13
benign
NC_000002.12:g.110069919_110205214del deletion Joubert syndrome with renal defect [RCV001250199] Chr2:110827496..110962791 [GRCh37]
Chr2:2q13
pathogenic
GRCh38/hg38 2q13(chr2:110091573-110205023) copy number loss Nephronophthisis 1 [RCV002221460] Chr2:110091573..110205023 [GRCh38]
Chr2:2q13
pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
GRCh37/hg19 2q13(chr2:110498141-111365996)x3 copy number gain See cases [RCV002286595] Chr2:110498141..111365996 [GRCh37]
Chr2:2q13
uncertain significance
NM_005434.5(MALL):c.4G>C (p.Ala2Pro) single nucleotide variant not specified [RCV004120708] Chr2:110115789 [GRCh38]
Chr2:110873366 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3 copy number gain not provided [RCV003484073] Chr2:108534031..111365996 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1 copy number loss not provided [RCV003484838] Chr2:107029681..113127751 [GRCh37]
Chr2:2q12.2-13
pathogenic
GRCh37/hg19 2q13(chr2:110873265-113090065)x1 copy number loss not provided [RCV003440304] Chr2:110873265..113090065 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110873265-110970348)x0 copy number loss not provided [RCV003440303] Chr2:110873265..110970348 [GRCh37]
Chr2:2q13
pathogenic
GRCh38/hg38 2q13(chr2:109301667-110460985) copy number gain Autism spectrum disorder [RCV003883392] Chr2:109301667..110460985 [GRCh38]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1 copy number loss not specified [RCV003986287] Chr2:107032426..113111856 [GRCh37]
Chr2:2q12.2-13
pathogenic
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 copy number loss not specified [RCV003986380] Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2
pathogenic
GRCh37/hg19 2q13(chr2:110552043-111091471)x1 copy number loss not provided [RCV003885489] Chr2:110552043..111091471 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110814357-111177015)x0 copy number loss not provided [RCV003885490] Chr2:110814357..111177015 [GRCh37]
Chr2:2q13
pathogenic
NM_005434.5(MALL):c.13G>T (p.Asp5Tyr) single nucleotide variant not specified [RCV004640601] Chr2:110115780 [GRCh38]
Chr2:110873357 [GRCh37]
Chr2:2q13
uncertain significance
Single allele deletion Nephronophthisis 1 [RCV004701251] Chr2:110115689..110212823 [GRCh38]
Chr2:2q13
pathogenic
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596958963GWAS1078482_Hresponse to warfarin QTL GWAS1078482 (human)6e-08response to warfarin2110109675110109676Human
597284561GWAS1380635_Hresponse to warfarin QTL GWAS1380635 (human)6e-08response to warfarin2110109675110109676Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2781 2249 4784 1706 2328 5 605 1177 446 2264 6496 5692 52 3550 1 849 1730 1613 174 1

Sequence


Ensembl Acc Id: ENST00000272462   ⟹   ENSP00000272462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,083,870 - 110,115,822 (-)Ensembl
Ensembl Acc Id: ENST00000424988   ⟹   ENSP00000394792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2110,085,712 - 110,115,821 (-)Ensembl
Ensembl Acc Id: ENST00000427178   ⟹   ENSP00000400518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.02110,506,185 - 110,514,140 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371560   ⟹   NP_001358489
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,083,870 - 110,115,822 (-)NCBI
T2T-CHM13v2.02110,506,185 - 110,514,140 (-)NCBI
Sequence:
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
T2T-CHM13v2.02110,506,185 - 110,514,140 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005425   ⟸   NM_005434
- Peptide Label: isoform 1
- UniProtKB: Q9BTU0 (UniProtKB/Swiss-Prot),   Q13021 (UniProtKB/Swiss-Prot),   B3KWR6 (UniProtKB/Swiss-Prot),   B3KPQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358488   ⟸   NM_001371559
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001358489   ⟸   NM_001371560
- Peptide Label: isoform 3
Ensembl Acc Id: ENSP00000394792   ⟸   ENST00000424988
Ensembl Acc Id: ENSP00000400518   ⟸   ENST00000427178
Ensembl Acc Id: ENSP00000272462   ⟸   ENST00000272462
Protein Domains
MARVEL

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13021-F1-model_v2 AlphaFold Q13021 1-153 view protein structure

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

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 Transcript ENST00000272462 ENTREZGENE
  ENST00000272462.3 UniProtKB/Swiss-Prot
  ENST00000424988.1 UniProtKB/TrEMBL
  ENST00000427178.1 UniProtKB/TrEMBL
GTEx ENSG00000144063 GTEx
HGNC ID HGNC:6818 ENTREZGENE
Human Proteome Map MALL Human Proteome Map
InterPro MAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Marvel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MARVEL-CKLF_proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7851 UniProtKB/Swiss-Prot
NCBI Gene MALL ENTREZGENE
OMIM 602022 OMIM
PANTHER MAL-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MARVEL-CONTAINING POTENTIAL LIPID RAFT-ASSOCIATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MARVEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30567 PharmGKB
PRINTS MALPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MARVEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KPQ3 ENTREZGENE, UniProtKB/TrEMBL
  B3KWR6 ENTREZGENE
  C9IZ55_HUMAN UniProtKB/TrEMBL
  F8WE57_HUMAN UniProtKB/TrEMBL
  MALL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BTU0 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  MALL  mal, T-cell differentiation protein like  Symbol and/or name change 5135510 APPROVED
2016-05-10 MALL  mal, T-cell differentiation protein like  MALL  mal, T-cell differentiation protein-like  Symbol and/or name change 5135510 APPROVED