PRKAB2 (protein kinase AMP-activated non-catalytic subunit beta 2) - Rat Genome Database

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Gene: PRKAB2 (protein kinase AMP-activated non-catalytic subunit beta 2) Homo sapiens
Analyze
Symbol: PRKAB2
Name: protein kinase AMP-activated non-catalytic subunit beta 2
RGD ID: 735943
HGNC Page HGNC:9379
Description: Contributes to AMP-activated protein kinase activity. Involved in cellular response to nutrient levels. Part of nucleotide-activated protein kinase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5'-AMP-activated protein kinase subunit beta-2; 5'-AMP-activated protein kinase, beta-2 subunit; AMP-activated protein kinase beta 2 non-catalytic subunit; AMPK beta 2; AMPK beta-2 chain; AMPK subunit beta-2; MGC61468
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,155,106 - 147,172,470 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,155,106 - 147,172,550 (-)EnsemblGRCh38hg38GRCh38
GRCh371146,626,685 - 146,644,049 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,093,309 - 145,110,753 (-)NCBINCBI36Build 36hg18NCBI36
Build 341143,851,502 - 143,868,945NCBI
Celera1122,340,718 - 122,358,162 (+)NCBICelera
Cytogenetic Map1q21.1NCBI
HuRef1120,039,190 - 120,056,673 (-)NCBIHuRef
CHM1_11148,523,232 - 148,540,715 (-)NCBICHM1_1
T2T-CHM13v2.01147,635,939 - 147,653,299 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-vinylcyclohexene dioxide  (ISO)
6-propyl-2-thiouracil  (ISO)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
cantharidin  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
doxorubicin  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
FR900359  (EXP)
graphite  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
ifosfamide  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
lycopene  (ISO)
manganese(II) chloride  (ISO)
menadione  (EXP,ISO)
metformin  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
phenethyl isothiocyanate  (EXP)
quercetin  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
Triptolide  (ISO)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The AMP-activated protein kinase pathway--new players upstream and downstream. Hardie DG J Cell Sci. 2004 Nov 1;117(Pt 23):5479-87.
3. Management of cellular energy by the AMP-activated protein kinase system. Hardie DG, etal., FEBS Lett. 2003 Jul 3;546(1):113-20.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Mammalian AMP-activated protein kinase subfamily. Stapleton D, etal., J Biol Chem 1996 Jan 12;271(2):611-4.
Additional References at PubMed
PMID:8621499   PMID:8626596   PMID:8889548   PMID:9224708   PMID:9575201   PMID:10698692   PMID:11257506   PMID:11752456   PMID:12433937   PMID:12477932   PMID:12490143   PMID:14651849  
PMID:14702039   PMID:15058305   PMID:15060529   PMID:15489334   PMID:16054041   PMID:16306228   PMID:16341674   PMID:16344560   PMID:16505254   PMID:16710414   PMID:16712791   PMID:17012231  
PMID:17353931   PMID:17851531   PMID:18029386   PMID:18836454   PMID:18996102   PMID:19171932   PMID:19616115   PMID:19720090   PMID:19836452   PMID:19913121   PMID:19948975   PMID:20392842  
PMID:20534808   PMID:20562859   PMID:20628086   PMID:20682687   PMID:21344388   PMID:21399626   PMID:21516116   PMID:21651489   PMID:21873635   PMID:21988832   PMID:22305490   PMID:22363791  
PMID:22897928   PMID:22935535   PMID:23455922   PMID:23552691   PMID:24722188   PMID:25412657   PMID:25416956   PMID:25852190   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27107012  
PMID:27411013   PMID:28514442   PMID:29657085   PMID:29892012   PMID:30206123   PMID:30566533   PMID:31189568   PMID:31391242   PMID:31515488   PMID:31900314   PMID:32296183   PMID:32707033  
PMID:32814053   PMID:33454005   PMID:33961781   PMID:35256949   PMID:35271311   PMID:36736316  


Genomics

Comparative Map Data
PRKAB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,155,106 - 147,172,470 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,155,106 - 147,172,550 (-)EnsemblGRCh38hg38GRCh38
GRCh371146,626,685 - 146,644,049 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,093,309 - 145,110,753 (-)NCBINCBI36Build 36hg18NCBI36
Build 341143,851,502 - 143,868,945NCBI
Celera1122,340,718 - 122,358,162 (+)NCBICelera
Cytogenetic Map1q21.1NCBI
HuRef1120,039,190 - 120,056,673 (-)NCBIHuRef
CHM1_11148,523,232 - 148,540,715 (-)NCBICHM1_1
T2T-CHM13v2.01147,635,939 - 147,653,299 (+)NCBIT2T-CHM13v2.0
Prkab2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39397,565,527 - 97,581,128 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl397,565,509 - 97,581,128 (+)EnsemblGRCm39 Ensembl
GRCm38397,658,211 - 97,673,812 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl397,658,193 - 97,673,812 (+)EnsemblGRCm38mm10GRCm38
MGSCv37397,462,135 - 97,477,006 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36397,743,617 - 97,758,488 (+)NCBIMGSCv36mm8
Celera399,057,874 - 99,072,745 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map342.25NCBI
Prkab2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82187,946,008 - 187,961,615 (+)NCBIGRCr8
mRatBN7.22185,257,218 - 185,272,846 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2185,257,213 - 185,269,872 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2192,905,393 - 192,917,612 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02190,713,236 - 190,725,438 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02185,538,007 - 185,550,226 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02199,831,990 - 199,847,623 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2199,831,990 - 199,847,629 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02219,309,807 - 219,325,389 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42192,498,430 - 192,510,624 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12192,461,183 - 192,473,369 (+)NCBI
Celera2177,749,772 - 177,761,966 (+)NCBICelera
Cytogenetic Map2q34NCBI
Prkab2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555681,252,736 - 1,279,761 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555681,253,331 - 1,279,761 (+)NCBIChiLan1.0ChiLan1.0
PRKAB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21102,556,601 - 102,574,428 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11102,144,935 - 102,162,775 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01122,577,308 - 122,595,083 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11112,934,877 - 112,952,364 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1112,934,877 - 112,952,364 (+)Ensemblpanpan1.1panPan2
PRKAB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11757,614,499 - 57,630,041 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1757,616,451 - 57,630,041 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1757,138,994 - 57,154,977 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01758,608,987 - 58,624,968 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11757,507,665 - 57,523,856 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01757,555,486 - 57,571,458 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01758,281,440 - 58,297,432 (-)NCBIUU_Cfam_GSD_1.0
LOC101973983
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050583,224,028 - 3,239,362 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493695377,688 - 93,374 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493695377,671 - 93,383 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRKAB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4100,378,071 - 100,394,338 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14100,378,047 - 100,394,346 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24110,207,633 - 110,223,926 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRKAB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603815,067,417 - 15,083,027 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prkab2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477216,110,294 - 16,127,119 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477216,110,805 - 16,127,221 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRKAB2
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Optic atrophy [RCV000626498] Chr1:146618988..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148359881)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|See cases [RCV000050346] Chr1:147035964..148359881 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x3 copy number gain See cases [RCV000050917] Chr1:146987841..148234205 [GRCh38]
Chr1:145987156..147411593 [GRCh37]
Chr1:144698513..145878217 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000050515] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x1 copy number loss Global developmental delay [RCV000050689]|See cases [RCV000050689] Chr1:145232830..148587578 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000050634] Chr1:146354110..148503773 [GRCh38]
Chr1:146143189..149699420 [GRCh37]
Chr1:144854546..147966044 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000051058] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x1 copy number loss Nonsyndromic microcephaly [RCV000051059]|Expressive language delay [RCV000051060]|Global developmental delay [RCV000051061]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|See cases [RCV000051059] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052252] Chr1:146987841..148437125 [GRCh38]
Chr1:145986956..147909235 [GRCh37]
Chr1:144698313..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436925)x1 copy number loss See cases [RCV000052262] Chr1:146987841..148436925 [GRCh38]
Chr1:145987156..147909035 [GRCh37]
Chr1:144698513..146375659 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052264] Chr1:146987841..148328747 [GRCh38]
Chr1:146079197..147800872 [GRCh37]
Chr1:144790554..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052267] Chr1:146987841..148328747 [GRCh38]
Chr1:146083024..147800872 [GRCh37]
Chr1:144794381..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x1 copy number loss See cases [RCV000052269] Chr1:146987841..148444397 [GRCh38]
Chr1:146096433..147916499 [GRCh37]
Chr1:144807790..146383123 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052271] Chr1:146987841..148234205 [GRCh38]
Chr1:146096433..147400685 [GRCh37]
Chr1:144807790..145867309 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052272] Chr1:146987841..148328747 [GRCh38]
Chr1:146096433..147800872 [GRCh37]
Chr1:144807790..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x3 copy number gain See cases [RCV000052276] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052277] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000052282] Chr1:146987841..148359881 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052283] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|See cases [RCV000052245] Chr1:146987841..148437125 [GRCh38]
Chr1:145655792..147909235 [GRCh37]
Chr1:144367149..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052247] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148167468)x1 copy number loss See cases [RCV000052299] Chr1:147029419..148167468 [GRCh38]
Chr1:146500972..147711813 [GRCh37]
Chr1:144967596..146178437 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148342687)x1 copy number loss See cases [RCV000052303] Chr1:147029419..148342687 [GRCh38]
Chr1:146500972..147814815 [GRCh37]
Chr1:144967596..146281439 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000052306] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3 copy number gain See cases [RCV000053186] Chr1:146987841..148492647 [GRCh38]
Chr1:145764367..147988684 [GRCh37]
Chr1:144475724..146455308 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148287692)x3 copy number gain See cases [RCV000053192] Chr1:146987841..148287692 [GRCh38]
Chr1:146083023..147759798 [GRCh37]
Chr1:144794380..146226422 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x3 copy number gain See cases [RCV000053193] Chr1:146987841..148444397 [GRCh38]
Chr1:146083024..147916499 [GRCh37]
Chr1:144794381..146383123 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053203] Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147055789-148328747)x3 copy number gain See cases [RCV000053204] Chr1:147055789..148328747 [GRCh38]
Chr1:146527351..147800872 [GRCh37]
Chr1:144993975..146267496 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148273480)x3 copy number gain See cases [RCV000053205] Chr1:147099720..148273480 [GRCh38]
Chr1:146571304..147745610 [GRCh37]
Chr1:145037928..146212234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000053206] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000053743] Chr1:146987841..148437125 [GRCh38]
Chr1:145425195..147909235 [GRCh37]
Chr1:144136552..146375859 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 copy number loss See cases [RCV000053699] Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1 copy number loss See cases [RCV000053725] Chr1:146987841..149343657 [GRCh38]
Chr1:144912271..147814815 [GRCh37]
Chr1:143623628..146281439 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 copy number loss See cases [RCV000053700] Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1 copy number loss See cases [RCV000053882] Chr1:144810725..146858488 [GRCh37]
Chr1:143456705..145325112 [NCBI36]
Chr1:1q21.1
pathogenic
NM_005399.4(PRKAB2):c.678C>T (p.Asp226=) single nucleotide variant Malignant melanoma [RCV000059862] Chr1:147161775 [GRCh38]
Chr1:146633354 [GRCh37]
Chr1:145099978 [NCBI36]
Chr1:1q21.1
not provided
GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212) copy number gain Chromosome 1q21.1 duplication syndrome [RCV003236709] Chr1:146465878..147416212 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000051059] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207) copy number gain Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001291962] Chr1:145818702..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207) copy number loss Delayed speech and language development [RCV001291984] Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x1 copy number loss See cases [RCV000133790] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x3 copy number gain See cases [RCV000050346] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain See cases [RCV000053172] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052242] Chr1:146987841..148234205 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000134191] Chr1:146354110..148503773 [GRCh38]
Chr1:145388355..149418924 [GRCh37]
Chr1:144099712..147685548 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000134219] Chr1:146964168..148572213 [GRCh38]
Chr1:146038914..147838700 [GRCh37]
Chr1:144750271..146305324 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148352079)x3 copy number gain See cases [RCV000133957] Chr1:147035964..148352079 [GRCh38]
Chr1:146507518..147824207 [GRCh37]
Chr1:144974142..146290831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148415560)x3 copy number gain See cases [RCV000134089] Chr1:146987841..148415560 [GRCh38]
Chr1:145899359..147887713 [GRCh37]
Chr1:144610716..146354337 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000135335] Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3 copy number gain See cases [RCV000135345] Chr1:146355224..148494171 [GRCh38]
Chr1:145899339..148782879 [GRCh37]
Chr1:144610696..147049503 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 copy number gain See cases [RCV000135740] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 copy number loss See cases [RCV000135741] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x3 copy number gain See cases [RCV000135684] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4 copy number gain See cases [RCV000135513] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000135484] Chr1:146964168..148572213 [GRCh38]
Chr1:146074031..147834140 [GRCh37]
Chr1:144785388..146300764 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3 copy number gain See cases [RCV000136532] Chr1:146355224..148503773 [GRCh38]
Chr1:145425395..149768855 [GRCh37]
Chr1:144136752..148035479 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 copy number gain See cases [RCV000135936] Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely benign
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137526] Chr1:146987841..148355961 [GRCh38]
Chr1:145655992..147828089 [GRCh37]
Chr1:144367349..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137600] Chr1:146987841..148355961 [GRCh38]
Chr1:145804679..147828089 [GRCh37]
Chr1:144516036..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137231] Chr1:146987841..148234205 [GRCh38]
Chr1:146143189..147721869 [GRCh37]
Chr1:144854546..146188493 [NCBI36]
Chr1:1q21.1-21.2
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138054] Chr1:146987841..148355961 [GRCh38]
Chr1:146053414..147828089 [GRCh37]
Chr1:144764771..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148352079)x3 copy number gain See cases [RCV000137889] Chr1:147029419..148352079 [GRCh38]
Chr1:146500972..147824207 [GRCh37]
Chr1:144967596..146290831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147002657-148355961)x1 copy number loss See cases [RCV000137764] Chr1:147002657..148355961 [GRCh38]
Chr1:146474216..147828089 [GRCh37]
Chr1:144940840..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147071299-148355961)x1 copy number loss See cases [RCV000137947] Chr1:147071299..148355961 [GRCh38]
Chr1:146542843..147828089 [GRCh37]
Chr1:145009467..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1 copy number loss See cases [RCV000138709] Chr1:146354110..148494217 [GRCh38]
Chr1:145626237..149453964 [GRCh37]
Chr1:144337594..147720588 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3 copy number gain See cases [RCV000138851] Chr1:147036093..148352084 [GRCh38]
Chr1:146507649..147824212 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:147156522-148352084)x3 copy number gain See cases [RCV000138854] Chr1:147156522..148352084 [GRCh38]
Chr1:146628101..147824212 [GRCh37]
Chr1:145094725..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x1 copy number loss See cases [RCV000138516] Chr1:146987841..148352084 [GRCh38]
Chr1:145415156..147824212 [GRCh37]
Chr1:144126513..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x3 copy number gain See cases [RCV000138637] Chr1:146987841..148352084 [GRCh38]
Chr1:145799556..147824212 [GRCh37]
Chr1:144510913..146290836 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:147036155-147945622)x1 copy number loss See cases [RCV000139330] Chr1:147036155..147945622 [GRCh38]
Chr1:146507711..147417736 [GRCh37]
Chr1:144974335..145884360 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138893] Chr1:146987841..148355961 [GRCh38]
Chr1:145723321..147828089 [GRCh37]
Chr1:144434678..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000139942] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147830830 [GRCh37]
Chr1:144816527..146297454 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145751815-148000664)x3 copy number gain See cases [RCV000140155] Chr1:145751815..148000664 [GRCh37]
Chr1:144463172..146467288 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000141206] Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141344] Chr1:146964168..148572213 [GRCh38]
Chr1:146053414..147860552 [GRCh37]
Chr1:144764771..146327176 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000140902] Chr1:146964168..148572213 [GRCh38]
Chr1:145932455..147385641 [GRCh37]
Chr1:144643812..145852265 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 copy number gain See cases [RCV000140695] Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000141896] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147830830 [GRCh37]
Chr1:144813147..146297454 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141980] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147844758 [GRCh37]
Chr1:144755070..146311382 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 copy number loss See cases [RCV000141747] Chr1:146105170..148016122 [GRCh37]
Chr1:144816527..146482746 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145888925-148020200)x1 copy number loss See cases [RCV000141688] Chr1:145888925..148020200 [GRCh37]
Chr1:144600282..146486824 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147036093-147909352)x1 copy number loss See cases [RCV000142425] Chr1:147036093..147909352 [GRCh38]
Chr1:146507649..147381479 [GRCh37]
Chr1:144974273..145848103 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3 copy number gain See cases [RCV000142509] Chr1:146354110..148503773 [GRCh38]
Chr1:145425395..149699420 [GRCh37]
Chr1:144136752..147966044 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000142212] Chr1:146964168..148572213 [GRCh38]
Chr1:146096701..147832190 [GRCh37]
Chr1:144808058..146298814 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000142030] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147897962 [GRCh37]
Chr1:144813147..146364586 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142100] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147830830 [GRCh37]
Chr1:144969915..146297454 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3 copy number gain See cases [RCV000142102] Chr1:147016574..149087283 [GRCh38]
Chr1:146488131..147995251 [GRCh37]
Chr1:144954755..146461875 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142150] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819294 [GRCh37]
Chr1:144969915..146285918 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147054748-148355961)x3 copy number gain See cases [RCV000142921] Chr1:147054748..148355961 [GRCh38]
Chr1:146526310..147828089 [GRCh37]
Chr1:144992934..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x1 copy number loss See cases [RCV000142561] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000142798] Chr1:146987841..148355961 [GRCh38]
Chr1:145626237..147828089 [GRCh37]
Chr1:144337594..146294713 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3 copy number gain See cases [RCV000143372] Chr1:147026741..149087283 [GRCh38]
Chr1:146498298..147828510 [GRCh37]
Chr1:144964922..146295134 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143304] Chr1:146964168..148572213 [GRCh38]
Chr1:146145424..147929323 [GRCh37]
Chr1:144856781..146395947 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143128] Chr1:146964168..148572213 [GRCh38]
Chr1:145886339..147926347 [GRCh37]
Chr1:144597696..146392971 [NCBI36]
Chr1:1q21.1-21.2
pathogenic|likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000148082] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000143769] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819815 [GRCh37]
Chr1:144969915..146286439 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148050] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148051]|See cases [RCV000509064] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000148052] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148054] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143745] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147929323 [GRCh37]
Chr1:144816527..146395947 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148055] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148057] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4 copy number gain See cases [RCV000143488] Chr1:146999330..149087283 [GRCh38]
Chr1:146470888..147830903 [GRCh37]
Chr1:144937512..146297527 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143533] Chr1:146964168..148572213 [GRCh38]
Chr1:145895747..147831170 [GRCh37]
Chr1:144607104..146297794 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143646] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147830830 [GRCh37]
Chr1:144755070..146297454 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147978640)x3 copy number gain See cases [RCV000143585] Chr1:145885646..147978640 [GRCh37]
Chr1:144597003..146445264 [NCBI36]
Chr1:1q21.1-21.2
likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143509] Chr1:146964168..148572213 [GRCh38]
Chr1:145932454..147819294 [GRCh37]
Chr1:144643811..146285918 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143612] Chr1:146964168..148572213 [GRCh38]
Chr1:145888925..147926347 [GRCh37]
Chr1:144600282..146392971 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137606] Chr1:146987841..148234205 [GRCh38]
Chr1:145415190..146474275 [GRCh37]
Chr1:144126547..144940899 [NCBI36]
Chr1:1q21.1
uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000148155] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148176] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678) copy number loss Chromosome 1q21.1 deletion syndrome [RCV000767660] Chr1:146618988..147825678 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000053734] Chr1:146987841..148234205 [GRCh38]
Chr1:145310254..146491118 [GRCh37]
Chr1:144021611..144957742 [NCBI36]
Chr1:1q21.1
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147380935)x1 copy number loss See cases [RCV000239836] Chr1:146535353..147380935 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147844809)x1 copy number loss See cases [RCV000239831] Chr1:146535353..147844809 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867793)x3 copy number gain See cases [RCV000239811] Chr1:146535353..147867793 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877206)x3 copy number gain See cases [RCV000240235] Chr1:146535353..147877206 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147048600)x3 copy number gain See cases [RCV000449054] Chr1:146496425..147048600 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895747-147962980)x1 copy number loss not provided [RCV002473948] Chr1:145895747..147962980 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225476] Chr1:146499479..147830375 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225655] Chr1:146089254..148004783 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147824207)x1 copy number loss See cases [RCV000239854] Chr1:146535353..147824207 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 copy number loss See cases [RCV000239847] Chr1:146542843..147857135 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857135)x1 copy number loss See cases [RCV000240361] Chr1:146535353..147857135 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)x3 copy number gain not provided [RCV000488100] Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767544] Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767546] Chr1:145765424..147142037 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele deletion Chromosome 1q21.1 deletion syndrome [RCV000414986] Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x3 copy number gain See cases [RCV000449268] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 copy number loss See cases [RCV000449106] Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147819294)x3 copy number gain See cases [RCV000446349] Chr1:146096700..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147819294)x3 copy number gain See cases [RCV000446850] Chr1:146043713..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 copy number gain See cases [RCV000447303] Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145886339-147897962)x1 copy number loss See cases [RCV000447310] Chr1:145886339..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147900955)x3 copy number gain See cases [RCV000446607] Chr1:146535353..147900955 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1 copy number loss See cases [RCV000446851] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867734)x3 copy number gain See cases [RCV000447215] Chr1:146535353..147867734 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 copy number loss See cases [RCV000446501] Chr1:146105170..148016122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857078)x1 copy number loss See cases [RCV000446048] Chr1:146535353..147857078 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146016526-147830830)x3 copy number gain See cases [RCV000447628] Chr1:146016526..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885645-147947839)x1 copy number loss See cases [RCV000446765] Chr1:145885645..147947839 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147929323)x3 copy number gain See cases [RCV000447186] Chr1:146496425..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877162)x3 copy number gain See cases [RCV000447634] Chr1:146535353..147877162 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146488131-147052016)x3 copy number gain See cases [RCV000447524] Chr1:146488131..147052016 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147856007)x1 copy number loss See cases [RCV000445872] Chr1:145895746..147856007 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss See cases [RCV000445777] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498198-147926347)x3 copy number gain See cases [RCV000448794] Chr1:146498198..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146127815-147844758)x1 copy number loss See cases [RCV000448648] Chr1:146127815..147844758 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147441040)x3 copy number gain See cases [RCV000448731] Chr1:146507518..147441040 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000448739] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147830830)x1 copy number loss See cases [RCV000448963] Chr1:146101790..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146106723-147830830)x3 copy number gain See cases [RCV000448239] Chr1:146106723..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147844758)x3 copy number gain See cases [RCV000512098] Chr1:145885646..147844758 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147830830)x3 copy number gain See cases [RCV000512072] Chr1:146096700..147830830 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096701-147898062)x1 copy number loss See cases [RCV000510373] Chr1:146096701..147898062 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496382-147409820)x3 copy number gain See cases [RCV000510399] Chr1:146496382..147409820 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148513854)x1 copy number loss See cases [RCV000510528] Chr1:146105170..148513854 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1 copy number loss not provided [RCV000509202] Chr1:146347096..147824207 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1 copy number loss not provided [RCV000509261] Chr1:146507518..147824207 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147929323)x1 copy number loss See cases [RCV000510416] Chr1:146043713..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147929323)x3 copy number gain See cases [RCV000510318] Chr1:145808308..147929323 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3 copy number gain See cases [RCV000510580] Chr1:145885646..147947839 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 copy number loss See cases [RCV000511960] Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 copy number loss See cases [RCV000511406] Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496381-147819294)x3 copy number gain See cases [RCV000511887] Chr1:146496381..147819294 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-148893164)x3 copy number gain See cases [RCV000511678] Chr1:145895746..148893164 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 copy number loss See cases [RCV000511474] Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000511760] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-148020200)x1 copy number loss See cases [RCV000511019] Chr1:146101790..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 copy number loss See cases [RCV000511224] Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147819294)x3 copy number gain See cases [RCV000511122] Chr1:146498298..147819294 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147814497)x3 copy number gain See cases [RCV000510814] Chr1:146496425..147814497 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145927662-147830830)x4 copy number gain See cases [RCV000511031] Chr1:145927662..147830830 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146003044-147832190)x3 copy number gain See cases [RCV000510735] Chr1:146003044..147832190 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146023923-147929323)x1 copy number loss See cases [RCV000510977] Chr1:146023923..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470888-147830903)x3 copy number gain See cases [RCV000510918] Chr1:146470888..147830903 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_005399.5(PRKAB2):c.541C>G (p.Leu181Val) single nucleotide variant Inborn genetic diseases [RCV003272747] Chr1:147162571 [GRCh38]
Chr1:146634150 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146488131-147398560)x3 copy number gain See cases [RCV000512214] Chr1:146488131..147398560 [GRCh37]
Chr1:1q21.1-21.2
pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147995251)x3 copy number gain See cases [RCV000512287] Chr1:145895746..147995251 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147926347)x3 copy number gain See cases [RCV000512412] Chr1:145808308..147926347 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-148020200)x1 copy number loss See cases [RCV000512350] Chr1:146105170..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 copy number gain not provided [RCV000684622] Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 copy number loss not provided [RCV000684624] Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 copy number loss not provided [RCV000684625] Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 copy number loss not provided [RCV000684626] Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 copy number gain not provided [RCV000684628] Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145733443-147929323)x1 copy number loss not provided [RCV000684633] Chr1:145733443..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145764393-147830830)x1 copy number loss not provided [RCV000684634] Chr1:145764393..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145769108-147929323)x1 copy number loss not provided [RCV000684635] Chr1:145769108..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770625-148514899)x1 copy number loss not provided [RCV000684636] Chr1:145770625..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-147926347)x1 copy number loss not provided [RCV000684637] Chr1:145770679..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-148519140)x1 copy number loss not provided [RCV000684638] Chr1:145770679..148519140 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145784611-148519963)x1 copy number loss not provided [RCV000684639] Chr1:145784611..148519963 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786289-147830830)x1 copy number loss not provided [RCV000684640] Chr1:145786289..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786360-148514899)x1 copy number loss not provided [RCV000684641] Chr1:145786360..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792037-147929323)x1 copy number loss not provided [RCV000684642] Chr1:145792037..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1 copy number loss not provided [RCV000684643] Chr1:145792051..148846369 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss not provided [RCV000684644] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147926347)x1 copy number loss not provided [RCV000684645] Chr1:145895746..147926347 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146030328-147897962)x1 copy number loss not provided [RCV000684646] Chr1:146030328..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147898062)x1 copy number loss not provided [RCV000684647] Chr1:146043713..147898062 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146117290-147897962)x1 copy number loss not provided [RCV000684648] Chr1:146117290..147897962 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146145424-147830830)x1 copy number loss not provided [RCV000684649] Chr1:146145424..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-147845170)x1 copy number loss not provided [RCV000684650] Chr1:146470887..147845170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470887-148020200)x1 copy number loss not provided [RCV000684651] Chr1:146470887..148020200 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146483912-147828510)x1 copy number loss not provided [RCV000684652] Chr1:146483912..147828510 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146505911-147829213)x1 copy number loss not provided [RCV000684653] Chr1:146505911..147829213 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.(?_145580669)_(149095000_?)del deletion Schizophrenia [RCV000754128] Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Schizophrenia [RCV000754132] Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146087074-148209414)x3 copy number gain not provided [RCV000736678] Chr1:146087074..148209414 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146087074-148250606)x3 copy number gain not provided [RCV000736679] Chr1:146087074..148250606 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146089254-147391614)x1 copy number loss not provided [RCV000736680] Chr1:146089254..147391614 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146089254-147911246)x1 copy number loss not provided [RCV000736681] Chr1:146089254..147911246 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x3 copy number gain not provided [RCV000736682] Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x1 copy number loss not provided [RCV000736683] Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146089268-149376652)x1 copy number loss not provided [RCV000736684] Chr1:146089268..149376652 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147393410)x1 copy number loss not provided [RCV000736685] Chr1:146501348..147393410 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147826789)x3 copy number gain not provided [RCV000736686] Chr1:146501348..147826789 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506206-147928995)x3 copy number gain not provided [RCV000749173] Chr1:146506206..147928995 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 copy number gain not provided [RCV000749164] Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147843733)x1 copy number loss not provided [RCV000749171] Chr1:146501348..147843733 [GRCh37]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146506206-147531377)x3 copy number gain not provided [RCV000749172] Chr1:146506206..147531377 [GRCh37]
Chr1:1q21.1-21.2
benign
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767545] Chr1:145103956..147220326 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767826] Chr1:145740598..147825678 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV000856631] Chr1:146521698..147721869 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000856632] Chr1:145804679..147735815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 copy number loss not provided [RCV001005134] Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265) copy number gain Hypoplastic left heart syndrome 1 [RCV002280613] Chr1:145792051..148001265 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122) copy number loss Chromosome 1q21.1 deletion syndrome [RCV000767693] Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 copy number gain not provided [RCV000848311] Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787409] Chr1:146474245..147858400 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1(chr1:146470887-146821326)x3 copy number gain not provided [RCV000848543] Chr1:146470887..146821326 [GRCh37]
Chr1:1q21.1
uncertain significance
Single allele deletion Chromosome 1q21.1 deletion syndrome [RCV000844901] Chr1:145723417..147897962 [GRCh37]
Chr1:1q21.1-21.2
not provided
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 copy number loss not provided [RCV001005133] Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 copy number gain not provided [RCV000849214] Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1(chr1:146488117-146821326)x3 copy number gain not provided [RCV000847107] Chr1:146488117..146821326 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146493131-147831043)x1 copy number loss not provided [RCV002468431] Chr1:146493131..147831043 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498299-147393336)x3 copy number gain not provided [RCV002473794] Chr1:146498299..147393336 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 copy number gain not provided [RCV001005132] Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 copy number gain not provided [RCV001005135] Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147825548)x3 copy number gain See cases [RCV001007413] Chr1:146501348..147825548 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3 copy number gain See cases [RCV001264401] Chr1:146500000..149500001 [GRCh37]
Chr1:1q21.1-21.2
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147819815)x3 copy number gain not provided [RCV001260120] Chr1:146112080..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146112080-147399145)x3 copy number gain not provided [RCV001260121] Chr1:146112080..147399145 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 copy number loss not provided [RCV001260118] Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146498298-147401392)x3 copy number gain not provided [RCV001260119] Chr1:146498298..147401392 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146496425-147819815)x3 copy number gain not provided [RCV001260122] Chr1:146496425..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146096700-147929323)x1 copy number loss not provided [RCV001260123] Chr1:146096700..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 copy number gain not provided [RCV001260124] Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266) copy number gain Delayed speech and language development [RCV001291985] Chr1:145818702..149378266 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146500972-147851297) copy number loss Aicardi syndrome [RCV001291972] Chr1:146500972..147851297 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NC_000001.11:g.145601946_148597425del deletion Radial aplasia-thrombocytopenia syndrome [RCV000853559] Chr1:145601946..148597425 [GRCh38]
Chr1:1q21.1-21.2
likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV001801176] Chr1:146022474..147599371 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000) copy number loss Chromosome 1q21.1 deletion syndrome [RCV002280718] Chr1:146101790..147831000 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147819294) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280722] Chr1:145808308..147819294 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043714-148514899)x1 copy number loss not provided [RCV001827839] Chr1:146043714..148514899 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145768022-148020154) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280721] Chr1:145768022..148020154 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
Single allele duplication Chromosome 1q21.1 duplication syndrome [RCV002227717] Chr1:147050137..148438699 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323) copy number loss Chromosome 1q21.1 deletion syndrome [RCV002280719] Chr1:146145424..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190) copy number loss Chromosome 1q21.1 deletion syndrome [RCV002280720] Chr1:146101790..147832190 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1 copy number loss See cases [RCV002287572] Chr1:145157447..148016122 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1 copy number loss See cases [RCV002287560] Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280723] Chr1:146043713..147830830 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1 copy number loss not provided [RCV002292765] Chr1:146626685..147597284 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1 copy number loss not provided [RCV002474588] Chr1:145074728..148832359 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770680-147929323)x1 copy number loss not provided [RCV002474558] Chr1:145770680..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145768023-147929323)x1 copy number loss not provided [RCV002474575] Chr1:145768023..147929323 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005399.5(PRKAB2):c.500A>G (p.Lys167Arg) single nucleotide variant Inborn genetic diseases [RCV002905476] Chr1:147166536 [GRCh38]
Chr1:146638115 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1 copy number loss not provided [RCV002511625] Chr1:145365287..147416212 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005399.5(PRKAB2):c.782A>G (p.Lys261Arg) single nucleotide variant Inborn genetic diseases [RCV002687857] Chr1:147159602 [GRCh38]
Chr1:146631181 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV002509026] Chr1:146542843..147857135 [GRCh37]
Chr1:1q21.1-21.2
not provided
NM_005399.5(PRKAB2):c.83C>G (p.Ala28Gly) single nucleotide variant Inborn genetic diseases [RCV002739654] Chr1:147172062 [GRCh38]
Chr1:146643641 [GRCh37]
Chr1:1q21.1
uncertain significance
NM_005399.5(PRKAB2):c.293A>G (p.Asn98Ser) single nucleotide variant Inborn genetic diseases [RCV002896575] Chr1:147167797 [GRCh38]
Chr1:146639376 [GRCh37]
Chr1:1q21.1
uncertain significance
Single allele duplication See cases [RCV003154634] Chr1:146397357..148344744 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1 copy number loss not provided [RCV003222662] Chr1:146405854..147597284 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
NM_005399.5(PRKAB2):c.590G>A (p.Arg197Gln) single nucleotide variant Inborn genetic diseases [RCV003308704] Chr1:147162522 [GRCh38]
Chr1:146634101 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1 copy number loss not provided [RCV003326784] Chr1:146057275..147581622 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV003329500] Chr1:146474687..147415708 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3 copy number gain Chromosome 1q21.1 deletion syndrome [RCV003329552] Chr1:145883619..147817082 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV003329511] Chr1:145883619..147594599 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_005399.5(PRKAB2):c.533G>T (p.Cys178Phe) single nucleotide variant Inborn genetic diseases [RCV003371008] Chr1:147166503 [GRCh38]
Chr1:146638082 [GRCh37]
Chr1:1q21.1
uncertain significance
NM_005399.5(PRKAB2):c.82G>T (p.Ala28Ser) single nucleotide variant Inborn genetic diseases [RCV003352662] Chr1:147172063 [GRCh38]
Chr1:146643642 [GRCh37]
Chr1:1q21.1
uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1 copy number loss not provided [RCV003483360] Chr1:145769109..148216113 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641) copy number loss 1q21.1 microdeletion syndrome (BP3-BP4, distal) [RCV003448604] Chr1:146872717..148353641 [GRCh38]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146470888-147473821)x1 copy number loss not provided [RCV003483371] Chr1:146470888..147473821 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1 copy number loss not provided [RCV003483316] Chr1:145311525..147509544 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3 copy number gain not provided [RCV003484037] Chr1:146043714..147819815 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146577645-147391923)x3 copy number gain not provided [RCV003484038] Chr1:146577645..147391923 [GRCh37]
Chr1:1q21.1-21.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2639
Count of miRNA genes:1165
Interacting mature miRNAs:1446
Transcripts:ENST00000254101, ENST00000425272, ENST00000474939, ENST00000496858
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.

Markers in Region
D1S3545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,626,761 - 146,626,890UniSTSGRCh37
Build 361145,093,385 - 145,093,514RGDNCBI36
Celera1122,357,957 - 122,358,086RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,039,266 - 120,039,395UniSTS
GeneMap99-GB4 RH Map1540.36UniSTS
GeneMap99-G3 RH Map12345.0UniSTS
PRKAB2_2222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,627,331 - 146,628,114UniSTSGRCh37
Build 361145,093,955 - 145,094,738RGDNCBI36
Celera1122,356,733 - 122,357,516RGD
HuRef1120,039,836 - 120,040,619UniSTS
RH64681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,628,061 - 146,628,270UniSTSGRCh37
Build 361145,094,685 - 145,094,894RGDNCBI36
Celera1122,356,577 - 122,356,786RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,040,566 - 120,040,775UniSTS
GeneMap99-GB4 RH Map1537.59UniSTS
RH66499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,630,993 - 146,631,164UniSTSGRCh37
Build 361145,097,617 - 145,097,788RGDNCBI36
Celera1122,353,683 - 122,353,854RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,043,498 - 120,043,669UniSTS
GeneMap99-GB4 RH Map1536.8UniSTS
A006T33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,626,728 - 146,626,950UniSTSGRCh37
Build 361145,093,352 - 145,093,574RGDNCBI36
Celera1122,357,897 - 122,358,119RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,039,233 - 120,039,455UniSTS
GeneMap99-GB4 RH Map1540.36UniSTS
G16292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,631,499 - 146,631,721UniSTSGRCh37
Build 361145,098,123 - 145,098,345RGDNCBI36
Celera1122,353,126 - 122,353,348RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,044,004 - 120,044,226UniSTS
WI-22653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,639,823 - 146,640,000UniSTSGRCh37
Build 361145,106,447 - 145,106,624RGDNCBI36
Celera1122,344,847 - 122,345,024RGD
Cytogenetic Map1q21.1UniSTS
HuRef1120,052,328 - 120,052,505UniSTS
GeneMap99-GB4 RH Map1538.16UniSTS
Whitehead-RH Map1628.9UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2346 1947 1483 527 919 420 4296 1997 2166 245 1298 1464 121 960 2771 4
Low 92 1008 243 97 997 45 61 200 1568 174 162 149 54 1 244 17 2 2
Below cutoff 35 35

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC241584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI026131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI638769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL037763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU118301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV646012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV660341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM563523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM724633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM769516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU166852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU619639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX478507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA311731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB111633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA698245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000254101   ⟹   ENSP00000254101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,155,106 - 147,172,470 (-)Ensembl
RefSeq Acc Id: ENST00000474939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,162,512 - 147,172,550 (-)Ensembl
RefSeq Acc Id: ENST00000496858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,159,219 - 147,162,510 (-)Ensembl
RefSeq Acc Id: NM_005399   ⟹   NP_005390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,155,106 - 147,172,470 (-)NCBI
GRCh371146,626,685 - 146,644,168 (-)NCBI
Build 361145,093,309 - 145,110,753 (-)NCBI Archive
HuRef1120,039,190 - 120,056,673 (-)NCBI
CHM1_11148,523,232 - 148,540,715 (-)NCBI
T2T-CHM13v2.01147,635,939 - 147,653,299 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103870
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,155,106 - 147,172,470 (-)NCBI
HuRef1120,039,190 - 120,056,673 (-)NCBI
CHM1_11148,523,232 - 148,540,715 (-)NCBI
T2T-CHM13v2.01147,635,939 - 147,653,299 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103871
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,155,106 - 147,172,470 (-)NCBI
HuRef1120,039,190 - 120,056,673 (-)NCBI
CHM1_11148,523,232 - 148,540,715 (-)NCBI
T2T-CHM13v2.01147,635,939 - 147,653,299 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509729   ⟹   XP_011508031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,155,106 - 147,172,470 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424538   ⟹   XP_047280494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,155,106 - 147,172,470 (-)NCBI
RefSeq Acc Id: XM_047424539   ⟹   XP_047280495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,155,106 - 147,172,470 (-)NCBI
RefSeq Acc Id: XM_047424544   ⟹   XP_047280500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,155,106 - 147,172,470 (-)NCBI
RefSeq Acc Id: XM_054337543   ⟹   XP_054193518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01147,635,939 - 147,647,748 (+)NCBI
RefSeq Acc Id: XM_054337544   ⟹   XP_054193519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01147,635,939 - 147,647,748 (+)NCBI
RefSeq Acc Id: NP_005390   ⟸   NM_005399
- UniProtKB: B4DH06 (UniProtKB/Swiss-Prot),   A8K9V5 (UniProtKB/Swiss-Prot),   Q5VXY0 (UniProtKB/Swiss-Prot),   O43741 (UniProtKB/Swiss-Prot),   X5D2S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508031   ⟸   XM_011509729
- Peptide Label: isoform X2
- UniProtKB: X5D2S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000254101   ⟸   ENST00000254101
RefSeq Acc Id: XP_047280500   ⟸   XM_047424544
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047280494   ⟸   XM_047424538
- Peptide Label: isoform X1
- UniProtKB: O43741 (UniProtKB/Swiss-Prot),   B4DH06 (UniProtKB/Swiss-Prot),   A8K9V5 (UniProtKB/Swiss-Prot),   Q5VXY0 (UniProtKB/Swiss-Prot),   X5D2S2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280495   ⟸   XM_047424539
- Peptide Label: isoform X2
- UniProtKB: X5D2S2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193518   ⟸   XM_054337543
- Peptide Label: isoform X4
- UniProtKB: X5D2Z8 (UniProtKB/TrEMBL),   X5D2S2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193519   ⟸   XM_054337544
- Peptide Label: isoform X5
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43741-F1-model_v2 AlphaFold O43741 1-272 view protein structure

Promoters
RGD ID:6786319
Promoter ID:HG_KWN:4682
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005399,   OTTHUMT00000039472,   UC001EPF.1,   UC009WJF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361145,109,821 - 145,111,037 (-)MPROMDB
RGD ID:6856944
Promoter ID:EPDNEW_H1599
Type:initiation region
Name:PRKAB2_1
Description:protein kinase AMP-activated non-catalytic subunit beta 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,172,470 - 147,172,530EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9379 AgrOrtholog
COSMIC PRKAB2 COSMIC
Ensembl Genes ENSG00000131791 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254101 ENTREZGENE
  ENST00000254101.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.250.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131791 GTEx
HGNC ID HGNC:9379 ENTREZGENE
Human Proteome Map PRKAB2 Human Proteome Map
InterPro AMPK1_CBM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASC_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5565 UniProtKB/Swiss-Prot
NCBI Gene 5565 ENTREZGENE
OMIM 602741 OMIM
PANTHER 5'-AMP-ACTIVATED PROTEIN KINASE , BETA SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5'-AMP-ACTIVATED PROTEIN KINASE SUBUNIT BETA-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AMPK1_CBM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMPKBI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33747 PharmGKB
SMART AMPKBI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF160219 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K9V5 ENTREZGENE
  AAKB2_HUMAN UniProtKB/Swiss-Prot
  B4DH06 ENTREZGENE
  O43741 ENTREZGENE
  Q5VXY0 ENTREZGENE
  X5D2S2 ENTREZGENE, UniProtKB/TrEMBL
  X5D2Z8 ENTREZGENE, UniProtKB/TrEMBL
  X5D9J1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K9V5 UniProtKB/Swiss-Prot
  B4DH06 UniProtKB/Swiss-Prot
  Q5VXY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PRKAB2  protein kinase AMP-activated non-catalytic subunit beta 2  PRKAB2  protein kinase, AMP-activated, beta 2 non-catalytic subunit  Symbol and/or name change 5135510 APPROVED