RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: agammaglobulinemia 2
Accession: DOID:0081135
browse the term
Definition: An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. (DO)
Synonyms: exact_synonym: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT; AGM2; Agammaglobulinemia 2, Autosomal Recessive
primary_id: MIM:613500
alt_id: DOID:9001787
Please select species to view GViewer data.
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
P
C14H22orf15
chromosome 14 C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264
G
R
C20h22orf15
similar to human chromosome 22 open reading frame 15
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059
G
H
C22orf15
chromosome 22 open reading frame 15
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,762,990...23,765,863
Ensembl chr22:23,762,990...23,765,863
G
B
C23H22orf15
chromosome 23 C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,518,199...4,521,631
Ensembl chr22:22,604,096...22,606,948
G
D
C26H22orf15
chromosome 26 C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,744,203...28,747,320
Ensembl chr26:28,745,183...28,746,455
G
N
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,411,933...10,413,969
Ensembl chrNW_004624747:10,412,012...10,413,969
G
G
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,882,007...6,884,176
Ensembl chr19:6,878,662...6,884,655
G
P
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526
G
S
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,323,247...1,325,520
Ensembl chrNW_004936619:1,323,246...1,325,522
G
D
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,742,466...28,744,370
Ensembl chr26:28,742,526...28,744,369
G
B
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,521,604...4,523,740
G
C
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,472,833...8,474,745
Ensembl chrNW_004955455:8,472,833...8,479,129
G
R
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
G
M
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:75,768,964...75,773,584
Ensembl chr10:75,768,964...75,773,581
G
H
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
G
N
CUNH22orf15
chromosome unknown C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,413,941...10,416,539
G
G
CUNH22orf15
chromosome unknown C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,878,973...6,882,034
Ensembl chr19:6,879,478...6,881,927
G
S
CUNH22orf15
chromosome unknown C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,325,521...1,328,009
G
C
CUNH22orf15
chromosome unknown C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,474,717...8,478,840
Ensembl chrNW_004955455:8,470,295...8,477,310
G
N
Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,357,560...10,359,779
Ensembl chrNW_004624747:10,357,627...10,359,779
G
G
DERL3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,944,291...6,949,948
Ensembl chr19:6,947,403...6,949,845
G
P
DERL3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,672
G
S
Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,271,980...1,275,212
Ensembl chrNW_004936619:1,271,797...1,275,214
G
D
DERL3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400
G
B
DERL3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,589,448...4,594,628
Ensembl chr22:22,673,908...22,678,444
G
C
Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,415,868...8,418,753
Ensembl chrNW_004955455:8,415,839...8,421,762
G
R
Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
G
M
Derl3
Der1-like domain family, member 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:75,729,232...75,731,775
Ensembl chr10:75,729,247...75,731,775
G
H
DERL3
derlin 3
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,834,503...23,839,006
Ensembl chr22:23,834,503...23,839,128
G
B
DRICH1
aspartate rich 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
Ensembl chr22:22,459,821...22,482,939
G
H
DRICH1
aspartate rich 1
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,580,880...23,632,816
Ensembl chr22:23,608,452...23,632,321
G
M
Gm867
predicted gene 867
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:75,773,553...75,776,508
Ensembl chr10:75,773,557...75,776,506
G
B
IGLL1
immunoglobulin lambda like polypeptide 1
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
OMIM ClinVar
PMID:9419212 PMID:9536098 PMID:17576681 PMID:25502423 PMID:25741868 PMID:28492532 PMID:32888943 PMID:33046446 PMID:34619682 More...
G
M
Igll1
immunoglobulin lambda-like polypeptide 1
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
OMIM ClinVar
PMID:9419212 PMID:9536098 PMID:17576681 PMID:25502423 PMID:25741868 PMID:28492532 PMID:32888943 PMID:33046446 PMID:34619682 More...
NCBI chr16:16,678,535...16,681,849
Ensembl chr16:16,678,535...16,681,849
G
H
IGLL1
immunoglobulin lambda like polypeptide 1
IAGP
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
OMIM ClinVar
PMID:9419212 PMID:9536098 PMID:17576681 PMID:25502423 PMID:25741868 PMID:28492532 PMID:32888943 PMID:33046446 PMID:34619682 More...
NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
G
G
LOC103223018
uncharacterized LOC103223018
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,832,205...6,849,407
G
N
Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821
G
G
MIF
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757
G
P
MIF
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
G
S
Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
G
D
MIF
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
G
B
MIF
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
G
C
Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
G
R
Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
G
M
Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
G
H
MIF
macrophage migration inhibitory factor
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
G
N
Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,398,167...10,408,397
Ensembl chrNW_004624747:10,398,130...10,408,376
G
G
MMP11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,889,343...6,900,563
Ensembl chr19:6,889,385...6,899,788
G
P
MMP11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617
G
S
Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,309,013...1,320,062
Ensembl chrNW_004936619:1,310,846...1,320,062
G
D
MMP11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415
G
B
MMP11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,528,639...4,540,118
Ensembl chr22:22,615,969...22,624,567
G
C
Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,458,622...8,464,037
Ensembl chrNW_004955455:8,459,428...8,469,053
G
R
Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
G
M
Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:75,759,056...75,768,336
Ensembl chr10:75,759,056...75,772,330
G
H
MMP11
matrix metallopeptidase 11
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,772,849...23,784,316
Ensembl chr22:23,768,226...23,784,316
G
B
RGL4
ral guanine nucleotide dissociation stimulator like 4
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,453,352...4,455,451
G
H
RGL4
ral guanine nucleotide dissociation stimulator like 4
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,691,013...23,699,168
Ensembl chr22:23,688,136...23,699,176
G
N
Slc2a11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,314,718...10,357,501
Ensembl chrNW_004624747:10,315,205...10,344,045
G
G
SLC2A11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,954,917...6,992,241
Ensembl chr19:6,959,349...6,991,552
G
P
SLC2A11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,845,481...49,864,912
Ensembl chr14:49,845,324...49,863,188
G
S
Slc2a11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,228,408...1,250,772
Ensembl chrNW_004936619:1,225,891...1,250,585
G
D
SLC2A11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,652,173...28,673,817
Ensembl chr26:28,652,974...28,673,724
G
B
SLC2A11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,609,422...4,638,903
Ensembl chr22:22,693,639...22,723,223
G
C
Slc2a11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,374,144...8,399,766
Ensembl chrNW_004955455:8,370,418...8,399,779
G
H
SLC2A11
solute carrier family 2 member 11
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,856,934...23,886,312
Ensembl chr22:23,856,703...23,886,312
G
N
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719
G
G
SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784
G
P
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
G
S
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913
G
D
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
G
B
SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
G
C
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
G
R
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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M
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451
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H
SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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N
Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,422,747...10,425,633
Ensembl chrNW_004624747:10,424,262...10,425,438
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G
VPREB3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,869,415...6,871,366
Ensembl chr19:6,869,549...6,871,051
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P
VPREB3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr14:49,924,874...49,929,562
Ensembl chr14:49,925,379...49,929,541
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S
Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,332,863...1,334,135
Ensembl chrNW_004936619:1,332,863...1,334,046
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D
VPREB3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,750,702...28,751,928
Ensembl chr26:28,750,742...28,751,792
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B
VPREB3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
Ensembl chr22:22,594,271...22,595,988
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C
Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,483,685...8,485,514
Ensembl chrNW_004955455:8,484,198...8,485,357
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R
Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,717,421...12,718,785
Ensembl chr20:12,716,779...12,719,520
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M
Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:75,778,859...75,785,491
Ensembl chr10:75,778,891...75,785,491
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H
VPREB3
V-set pre-B cell surrogate light chain 3
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,752,743...23,754,425
Ensembl chr22:23,752,743...23,754,425
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Znf70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,426,982...10,431,945
Ensembl chrNW_004624747:10,426,991...10,432,859
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G
ZNF70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr19:6,858,875...6,867,805
Ensembl chr19:6,861,102...6,862,442
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S
Znf70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004936619:1,335,782...1,343,396
Ensembl chrNW_004936619:1,335,808...1,340,612
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D
ZNF70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr26:28,753,160...28,761,633
Ensembl chr26:28,756,927...28,758,276
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B
ZNF70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:4,496,079...4,506,864
Ensembl chr22:22,585,512...22,586,852
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C
Znf70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,486,052...8,492,437
Ensembl chrNW_004955455:8,490,100...8,491,440
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H
ZNF70
zinc finger protein 70
IAGP
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr22:23,738,682...23,751,112
Ensembl chr22:23,738,682...23,751,112
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