ZBTB24 (zinc finger and BTB domain containing 24) - Rat Genome Database
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Gene: ZBTB24 (zinc finger and BTB domain containing 24) Homo sapiens
Analyze
Symbol: ZBTB24
Name: zinc finger and BTB domain containing 24
RGD ID: 1315856
HGNC Page HGNC
Description: Predicted to have DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to localize to nuclear chromatin. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Bax-interacting factor-1; BIF1; ICF2; PATZ2; POZ (BTB) and AT hook containing zinc finger 2; zinc finger and BTB domain-containing protein 24; zinc finger protein 450; ZNF450
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
GRCh38.p13 Ensembl6109,462,594 - 109,483,219 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl6109,462,594 - 109,483,237 (-)EnsemblGRCh38hg38GRCh38
GRCh386109,462,594 - 109,483,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376109,783,719 - 109,804,440 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366109,890,412 - 109,911,133 (-)NCBINCBI36hg18NCBI36
Build 346109,890,411 - 109,911,133NCBI
Celera6110,530,317 - 110,551,038 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6107,349,834 - 107,370,476 (-)NCBIHuRef
CHM1_16110,046,805 - 110,067,503 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (IBA)
nucleus  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:9455477   PMID:12168954   PMID:12477932   PMID:14574404   PMID:15489334   PMID:15840729   PMID:16189514   PMID:17353931   PMID:18391951   PMID:19060904   PMID:19074440   PMID:19274049  
PMID:20881960   PMID:21596365   PMID:21873635   PMID:21906047   PMID:23455924   PMID:23486536   PMID:23739126   PMID:24175288   PMID:24778252   PMID:25281560   PMID:25330735   PMID:25416956  
PMID:25814554   PMID:26186194   PMID:26496610   PMID:26871637   PMID:27098601   PMID:27466202   PMID:27730394   PMID:28128455   PMID:28514442   PMID:29659838   PMID:29759485   PMID:29892012  
PMID:30010917   PMID:30021884   PMID:30085123   PMID:30511102   PMID:31030944   PMID:31515488   PMID:31561277   PMID:31751430   PMID:31839203   PMID:32296183  


Genomics

Comparative Map Data
ZBTB24
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6109,462,594 - 109,483,219 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl6109,462,594 - 109,483,237 (-)EnsemblGRCh38hg38GRCh38
GRCh386109,462,594 - 109,483,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376109,783,719 - 109,804,440 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366109,890,412 - 109,911,133 (-)NCBINCBI36hg18NCBI36
Build 346109,890,411 - 109,911,133NCBI
Celera6110,530,317 - 110,551,038 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6107,349,834 - 107,370,476 (-)NCBIHuRef
CHM1_16110,046,805 - 110,067,503 (-)NCBICHM1_1
Zbtb24
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391041,326,354 - 41,341,578 (+)NCBIGRCm39mm39
GRCm381041,450,358 - 41,465,582 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1041,450,383 - 41,465,574 (+)EnsemblGRCm38mm10GRCm38
MGSCv371041,170,202 - 41,185,380 (+)NCBIGRCm37mm9NCBIm37
MGSCv361041,138,811 - 41,153,989 (+)NCBImm8
Celera1042,336,649 - 42,351,827 (+)NCBICelera
Cytogenetic Map10B1NCBI
Zbtb24
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02046,168,149 - 46,189,806 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2046,168,177 - 46,189,806 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02047,865,623 - 47,882,126 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42045,409,557 - 45,426,510 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12045,431,891 - 45,434,228 (+)NCBI
Celera2054,989,650 - 55,005,488 (-)NCBICelera
Cytogenetic Map20q12NCBI
Zbtb24
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541134,503,812 - 34,521,196 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541134,502,355 - 34,521,196 (-)NCBIChiLan1.0ChiLan1.0
ZBTB24
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16111,314,128 - 111,334,687 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6111,314,134 - 111,334,674 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06107,265,762 - 107,286,397 (-)NCBIMhudiblu_PPA_v0panPan3
ZBTB24
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1266,369,083 - 66,380,759 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11266,368,160 - 66,380,631 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Zbtb24
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365645,588,360 - 5,606,140 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZBTB24
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl175,531,035 - 75,548,785 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1175,531,034 - 75,548,795 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2184,870,373 - 84,876,757 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZBTB24
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11364,383,306 - 64,401,148 (+)NCBI
ChlSab1.1 Ensembl1364,384,519 - 64,400,875 (+)Ensembl
Zbtb24
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624916720,119 - 738,934 (-)NCBI

Position Markers
STS-N24789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376109,785,811 - 109,786,055UniSTSGRCh37
Build 366109,892,504 - 109,892,748RGDNCBI36
Celera6110,532,409 - 110,532,653RGD
Cytogenetic Map6q21UniSTS
HuRef6107,351,926 - 107,352,170UniSTS
GeneMap99-GB4 RH Map6466.61UniSTS
NCBI RH Map61401.4UniSTS
WI-15119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376109,783,808 - 109,783,948UniSTSGRCh37
Build 366109,890,501 - 109,890,641RGDNCBI36
Celera6110,530,406 - 110,530,546RGD
Cytogenetic Map6q21UniSTS
HuRef6107,349,923 - 107,350,063UniSTS
GeneMap99-GB4 RH Map6464.18UniSTS
Whitehead-RH Map6687.2UniSTS
NCBI RH Map61401.4UniSTS
RH46701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376109,783,887 - 109,784,006UniSTSGRCh37
Build 366109,890,580 - 109,890,699RGDNCBI36
Celera6110,530,485 - 110,530,604RGD
Cytogenetic Map6q21UniSTS
HuRef6107,350,002 - 107,350,121UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61404.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1242
Count of miRNA genes:745
Interacting mature miRNAs:878
Transcripts:ENST00000230122
Prediction methods:Microtar, Miranda, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 148 8 62 22 758 25 405 46 158 74 256 230 7 10 99 3
Low 2290 2872 1663 601 1155 439 3951 2083 3541 345 1204 1383 168 1 1194 2689 3 2
Below cutoff 1 111 1 1 38 1 68 35

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000230122   ⟹   ENSP00000230122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6109,462,594 - 109,483,219 (-)Ensembl
RefSeq Acc Id: NM_001164313   ⟹   NP_001157785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,480,949 - 109,483,219 (-)NCBI
GRCh376109,783,719 - 109,804,440 (-)RGD
Celera6110,530,317 - 110,551,038 (-)RGD
HuRef6107,349,834 - 107,370,476 (-)ENTREZGENE
CHM1_16110,065,215 - 110,067,503 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014797   ⟹   NP_055612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,462,594 - 109,483,219 (-)NCBI
GRCh376109,783,719 - 109,804,440 (-)RGD
Build 366109,890,412 - 109,911,133 (-)NCBI Archive
Celera6110,530,317 - 110,551,038 (-)RGD
HuRef6107,349,834 - 107,370,476 (-)ENTREZGENE
CHM1_16110,046,805 - 110,067,503 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055612   ⟸   NM_014797
- Peptide Label: isoform 1
- UniProtKB: O43167 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001157785   ⟸   NM_001164313
- Peptide Label: isoform 2
- UniProtKB: O43167 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000230122   ⟸   ENST00000230122
Protein Domains
BTB

Promoters
RGD ID:7208869
Promoter ID:EPDNEW_H10180
Type:initiation region
Name:ZBTB24_1
Description:zinc finger and BTB domain containing 24
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
GRCh386109,483,219 - 109,483,279EPDNEW
RGD ID:6804396
Promoter ID:HG_KWN:54609
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001164313,   NM_014797,   UC010KDT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366109,910,976 - 109,911,677 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014797.2(ZBTB24):c.1389C>G (p.Ser463=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000546666] Chr6:109466556 [GRCh38]
Chr6:109787759 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.1552G>A (p.Ala518Thr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000529654] Chr6:109466393 [GRCh38]
Chr6:109787596 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.958C>T (p.Arg320Ter) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024088] Chr6:109476925 [GRCh38]
Chr6:109798128 [GRCh37]
Chr6:6q21
pathogenic
ZBTB24, SER16TER single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024089] Chr6:6q21 pathogenic
NM_014797.2(ZBTB24):c.833C>G (p.Ser278Ter) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024090] Chr6:109481194 [GRCh38]
Chr6:109802397 [GRCh37]
Chr6:6q21
pathogenic
NM_014797.2(ZBTB24):c.1222T>G (p.Cys408Gly) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024091] Chr6:109475465 [GRCh38]
Chr6:109796668 [GRCh37]
Chr6:6q21
pathogenic
NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024092]|Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 [RCV001250233] Chr6:109467654 [GRCh38]
Chr6:109788857 [GRCh37]
Chr6:6q21
pathogenic|likely pathogenic
NM_014797.2(ZBTB24):c.396_397del (p.His132fs) deletion Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000033203] Chr6:109481630..109481631 [GRCh38]
Chr6:109802833..109802834 [GRCh37]
Chr6:6q21
pathogenic
NM_014797.2(ZBTB24):c.1666G>A (p.Val556Ile) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000546814] Chr6:109466279 [GRCh38]
Chr6:109787482 [GRCh37]
Chr6:6q21
uncertain significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q21(chr6:107445281-110547907)x1 copy number loss See cases [RCV000141382] Chr6:107445281..110547907 [GRCh38]
Chr6:107766485..110869110 [GRCh37]
Chr6:107873178..110975803 [NCBI36]
Chr6:6q21
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649294]|Kabuki syndrome 1 [RCV000578131]|not specified [RCV000238885] Chr6:109481881 [GRCh38]
Chr6:109803084 [GRCh37]
Chr6:6q21
benign|uncertain significance
NM_014797.2(ZBTB24):c.341A>G (p.Gln114Arg) single nucleotide variant not specified [RCV000239181] Chr6:109481686 [GRCh38]
Chr6:109802889 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.952+56ATA[2] microsatellite Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001001833] Chr6:109481011..109481013 [GRCh38]
Chr6:109802214..109802216 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.1134del (p.Phe378fs) deletion not provided [RCV000733446] Chr6:109476245 [GRCh38]
Chr6:109797448 [GRCh37]
Chr6:6q21
likely pathogenic
NM_014797.2(ZBTB24):c.47C>G (p.Ser16Ter) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024089]|not provided [RCV000734958] Chr6:109481980 [GRCh38]
Chr6:109803183 [GRCh37]
Chr6:6q21
pathogenic
GRCh37/hg19 6q21(chr6:109564793-112223595)x1 copy number loss See cases [RCV000447293] Chr6:109564793..112223595 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6q21(chr6:109714115-109797421)x1 copy number loss See cases [RCV000448673] Chr6:109714115..109797421 [GRCh37]
Chr6:6q21
likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 copy number loss See cases [RCV000510703] Chr6:97384446..110247755 [GRCh37]
Chr6:6q16.1-21
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_014797.2(ZBTB24):c.1492_1493del (p.Gln498fs) deletion not provided [RCV000493496] Chr6:109466452..109466453 [GRCh38]
Chr6:109787655..109787656 [GRCh37]
Chr6:6q21
pathogenic
NM_014797.2(ZBTB24):c.14C>T (p.Ser5Leu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000554694] Chr6:109482013 [GRCh38]
Chr6:109803216 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.579G>A (p.Gln193=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000535606] Chr6:109481448 [GRCh38]
Chr6:109802651 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.1701C>T (p.Pro567=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000559372] Chr6:109466244 [GRCh38]
Chr6:109787447 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.439G>T (p.Val147Leu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649280] Chr6:109481588 [GRCh38]
Chr6:109802791 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.1154A>G (p.Lys385Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649281] Chr6:109476225 [GRCh38]
Chr6:109797428 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.1237C>T (p.Arg413Cys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649282]|not provided [RCV001090678] Chr6:109475450 [GRCh38]
Chr6:109796653 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.860A>G (p.Lys287Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649283] Chr6:109481167 [GRCh38]
Chr6:109802370 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.730G>C (p.Glu244Gln) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649284] Chr6:109481297 [GRCh38]
Chr6:109802500 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.1750A>T (p.Met584Leu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649285] Chr6:109466195 [GRCh38]
Chr6:109787398 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.2094A>G (p.Ter698Trp) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649286] Chr6:109465851 [GRCh38]
Chr6:109787054 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.135T>C (p.Asn45=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649287] Chr6:109481892 [GRCh38]
Chr6:109803095 [GRCh37]
Chr6:6q21
likely benign
NM_014797.2(ZBTB24):c.51C>T (p.Asp17=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649288] Chr6:109481976 [GRCh38]
Chr6:109803179 [GRCh37]
Chr6:6q21
likely benign
NM_014797.2(ZBTB24):c.1688T>C (p.Ile563Thr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649289] Chr6:109466257 [GRCh38]
Chr6:109787460 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.235C>T (p.Leu79=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649290] Chr6:109481792 [GRCh38]
Chr6:109802995 [GRCh37]
Chr6:6q21
likely benign
NM_014797.2(ZBTB24):c.1204+5G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649291] Chr6:109476170 [GRCh38]
Chr6:109797373 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.1289-23GTTTTT[2] microsatellite Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649292] Chr6:109467740..109467745 [GRCh38]
Chr6:109788943..109788948 [GRCh37]
Chr6:6q21
likely benign
NM_014797.2(ZBTB24):c.1672G>A (p.Asp558Asn) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649293] Chr6:109466273 [GRCh38]
Chr6:109787476 [GRCh37]
Chr6:6q21
benign
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21
pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1
pathogenic
NM_014797.2(ZBTB24):c.767G>A (p.Arg256Gln) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000700579] Chr6:109481260 [GRCh38]
Chr6:109802463 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.784G>A (p.Val262Ile) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000689747] Chr6:109481243 [GRCh38]
Chr6:109802446 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.301G>A (p.Ala101Thr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000690984] Chr6:109481726 [GRCh38]
Chr6:109802929 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.1969G>A (p.Glu657Lys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000694279] Chr6:109465976 [GRCh38]
Chr6:109787179 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.2068A>G (p.Thr690Ala) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000694360] Chr6:109465877 [GRCh38]
Chr6:109787080 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.1811A>G (p.Asn604Ser) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000699954] Chr6:109466134 [GRCh38]
Chr6:109787337 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.109T>C (p.Cys37Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000688386] Chr6:109481918 [GRCh38]
Chr6:109803121 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.1597G>C (p.Val533Leu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000696649] Chr6:109466348 [GRCh38]
Chr6:109787551 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_014797.3(ZBTB24):c.99A>G (p.Lys33=) single nucleotide variant not provided [RCV000925033] Chr6:109481928 [GRCh38]
Chr6:109803131 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.581A>T (p.Asn194Ile) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000881010] Chr6:109481446 [GRCh38]
Chr6:109802649 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.360C>T (p.Asp120=) single nucleotide variant not provided [RCV000906056] Chr6:109481667 [GRCh38]
Chr6:109802870 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.93G>A (p.Arg31=) single nucleotide variant not provided [RCV000936491] Chr6:109481934 [GRCh38]
Chr6:109803137 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.996C>T (p.Ala332=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000966467] Chr6:109476887 [GRCh38]
Chr6:109798090 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1686C>T (p.Asn562=) single nucleotide variant not provided [RCV000903697] Chr6:109466259 [GRCh38]
Chr6:109787462 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1734A>G (p.Ala578=) single nucleotide variant not provided [RCV000942321] Chr6:109466211 [GRCh38]
Chr6:109787414 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.855G>A (p.Arg285=) single nucleotide variant not provided [RCV000898836] Chr6:109481172 [GRCh38]
Chr6:109802375 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.2078G>A (p.Gly693Asp) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001041045] Chr6:109465867 [GRCh38]
Chr6:109787070 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.855G>T (p.Arg285Ser) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001053089] Chr6:109481172 [GRCh38]
Chr6:109802375 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.730G>A (p.Glu244Lys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001060546] Chr6:109481297 [GRCh38]
Chr6:109802500 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1602G>C (p.Arg534Ser) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001057526] Chr6:109466343 [GRCh38]
Chr6:109787546 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.356A>G (p.Tyr119Cys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000793355] Chr6:109481671 [GRCh38]
Chr6:109802874 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.884G>A (p.Arg295His) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000896484] Chr6:109481143 [GRCh38]
Chr6:109802346 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1149C>T (p.Cys383=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000921494] Chr6:109476230 [GRCh38]
Chr6:109797433 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1047G>A (p.Pro349=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000899861] Chr6:109476836 [GRCh38]
Chr6:109798039 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.225C>T (p.Ser75=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000926051] Chr6:109481802 [GRCh38]
Chr6:109803005 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1665C>T (p.Leu555=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000894551] Chr6:109466280 [GRCh38]
Chr6:109787483 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.619C>T (p.Leu207=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000958582] Chr6:109481408 [GRCh38]
Chr6:109802611 [GRCh37]
Chr6:6q21
likely benign
NM_014797.2(ZBTB24):c.943A>G (p.Ser315Gly) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000800402] Chr6:109481084 [GRCh38]
Chr6:109802287 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.788A>G (p.Lys263Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000809681] Chr6:109481239 [GRCh38]
Chr6:109802442 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.334A>G (p.Thr112Ala) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000801807] Chr6:109481693 [GRCh38]
Chr6:109802896 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.762C>T (p.Ser254=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000798899] Chr6:109481265 [GRCh38]
Chr6:109802468 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:109726649-110071067)x3 copy number gain not provided [RCV000846803] Chr6:109726649..110071067 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.2(ZBTB24):c.883C>T (p.Arg295Cys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000810119] Chr6:109481144 [GRCh38]
Chr6:109802347 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1121-9T>C single nucleotide variant not provided [RCV000939364] Chr6:109476267 [GRCh38]
Chr6:109797470 [GRCh37]
Chr6:6q21
likely benign
NM_014797.2(ZBTB24):c.1192C>T (p.Arg398Ter) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000805088] Chr6:109476187 [GRCh38]
Chr6:109797390 [GRCh37]
Chr6:6q21
pathogenic
NM_014797.3(ZBTB24):c.2070G>A (p.Thr690=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000963869] Chr6:109465875 [GRCh38]
Chr6:109787078 [GRCh37]
Chr6:6q21
benign
NM_014797.2(ZBTB24):c.1322A>G (p.Lys441Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000793297] Chr6:109467701 [GRCh38]
Chr6:109788904 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.783C>T (p.Ser261=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000960563] Chr6:109481244 [GRCh38]
Chr6:109802447 [GRCh37]
Chr6:6q21
benign
NM_014797.3(ZBTB24):c.1046C>T (p.Pro349Leu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001067320] Chr6:109476837 [GRCh38]
Chr6:109798040 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:109564694-112232351)x1 copy number loss not provided [RCV001007557] Chr6:109564694..112232351 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:109721133-110193742)x3 copy number gain not provided [RCV000848987] Chr6:109721133..110193742 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.121T>G (p.Leu41Val) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001228229] Chr6:109481906 [GRCh38]
Chr6:109803109 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1889C>T (p.Ser630Leu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001248655] Chr6:109466056 [GRCh38]
Chr6:109787259 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.2050C>T (p.His684Tyr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001237590] Chr6:109465895 [GRCh38]
Chr6:109787098 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.888dup (p.Lys297Ter) duplication Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001224021] Chr6:109481138..109481139 [GRCh38]
Chr6:109802341..109802342 [GRCh37]
Chr6:6q21
pathogenic
NM_014797.3(ZBTB24):c.85G>A (p.Asp29Asn) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001228753] Chr6:109481942 [GRCh38]
Chr6:109803145 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1715G>A (p.Gly572Glu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001235638] Chr6:109466230 [GRCh38]
Chr6:109787433 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.376A>G (p.Thr126Ala) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210660] Chr6:109481651 [GRCh38]
Chr6:109802854 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.952+6G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210454] Chr6:109481069 [GRCh38]
Chr6:109802272 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1753A>T (p.Thr585Ser) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001205565] Chr6:109466192 [GRCh38]
Chr6:109787395 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1498G>T (p.Ala500Ser) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210894] Chr6:109466447 [GRCh38]
Chr6:109787650 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1748A>G (p.Asn583Ser) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001047000] Chr6:109466197 [GRCh38]
Chr6:109787400 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.952+9G>C single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000983546] Chr6:109481066 [GRCh38]
Chr6:109802269 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1707T>A (p.Pro569=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000949718] Chr6:109466238 [GRCh38]
Chr6:109787441 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1689C>T (p.Ile563=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000930995] Chr6:109466256 [GRCh38]
Chr6:109787459 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1702G>A (p.Gly568Ser) single nucleotide variant not provided [RCV000974725] Chr6:109466243 [GRCh38]
Chr6:109787446 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.657G>A (p.Ser219=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000932778] Chr6:109481370 [GRCh38]
Chr6:109802573 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1177C>T (p.Leu393=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000892534] Chr6:109476202 [GRCh38]
Chr6:109797405 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1116C>T (p.His372=) single nucleotide variant not provided [RCV000928761] Chr6:109476767 [GRCh38]
Chr6:109797970 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1205-6G>A single nucleotide variant not provided [RCV000978891] Chr6:109475488 [GRCh38]
Chr6:109796691 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1059C>T (p.Thr353=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000961744] Chr6:109476824 [GRCh38]
Chr6:109798027 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1974C>G (p.Leu658=) single nucleotide variant not provided [RCV000926540] Chr6:109465971 [GRCh38]
Chr6:109787174 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.826C>G (p.His276Asp) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001244447] Chr6:109481201 [GRCh38]
Chr6:109802404 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1501C>T (p.Arg501Cys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001244628] Chr6:109466444 [GRCh38]
Chr6:109787647 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.904G>A (p.Val302Ile) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001219867] Chr6:109481123 [GRCh38]
Chr6:109802326 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1857C>T (p.Ser619=) single nucleotide variant not provided [RCV000936044] Chr6:109466088 [GRCh38]
Chr6:109787291 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.858A>G (p.Arg286=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000936050] Chr6:109481169 [GRCh38]
Chr6:109802372 [GRCh37]
Chr6:6q21
likely benign
NM_014797.3(ZBTB24):c.1538G>A (p.Ser513Asn) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001044173] Chr6:109466407 [GRCh38]
Chr6:109787610 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.99A>T (p.Lys33Asn) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001044693] Chr6:109481928 [GRCh38]
Chr6:109803131 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.401C>A (p.Ser134Tyr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001047174] Chr6:109481626 [GRCh38]
Chr6:109802829 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.818A>G (p.Gln273Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001211844] Chr6:109481209 [GRCh38]
Chr6:109802412 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.746G>A (p.Ser249Asn) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001217586] Chr6:109481281 [GRCh38]
Chr6:109802484 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.2069C>T (p.Thr690Met) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001234777] Chr6:109465876 [GRCh38]
Chr6:109787079 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.796G>A (p.Asp266Asn) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001218920] Chr6:109481231 [GRCh38]
Chr6:109802434 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.806T>C (p.Leu269Pro) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001219385] Chr6:109481221 [GRCh38]
Chr6:109802424 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1936G>A (p.Glu646Lys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001052105] Chr6:109466009 [GRCh38]
Chr6:109787212 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.620T>C (p.Leu207Pro) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210806] Chr6:109481407 [GRCh38]
Chr6:109802610 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.637G>A (p.Ala213Thr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001218385] Chr6:109481390 [GRCh38]
Chr6:109802593 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1155A>G (p.Lys385=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001041623] Chr6:109476224 [GRCh38]
Chr6:109797427 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.1280C>A (p.Thr427Lys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001062970] Chr6:109475407 [GRCh38]
Chr6:109796610 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.430G>C (p.Gly144Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001039151] Chr6:109481597 [GRCh38]
Chr6:109802800 [GRCh37]
Chr6:6q21
uncertain significance
NM_014797.3(ZBTB24):c.817C>T (p.Gln273Ter) single nucleotide variant not provided [RCV001090679] Chr6:109481210 [GRCh38]
Chr6:109802413 [GRCh37]
Chr6:6q21
likely pathogenic
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1
pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21143 AgrOrtholog
COSMIC ZBTB24 COSMIC
Ensembl Genes ENSG00000112365 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000230122 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000230122 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000112365 GTEx
HGNC ID HGNC:21143 ENTREZGENE
Human Proteome Map ZBTB24 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:9841 UniProtKB/Swiss-Prot
NCBI Gene 9841 ENTREZGENE
OMIM 614064 OMIM
  614069 OMIM
Pfam BTB UniProtKB/Swiss-Prot
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA134904966 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
  SSF57667 UniProtKB/Swiss-Prot
UniProt O43167 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q17RC6 UniProtKB/Swiss-Prot
  Q5TED5 UniProtKB/Swiss-Prot
  Q8N455 UniProtKB/Swiss-Prot