Full data view for gene ZBTB24

Information The variants shown are described using the NM_014797.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_7_ c.(?_-1)_(*1_?)del r.0 p.0 Both (homozygous) - pathogenic g.(109724312_109740389)_(110012705_110036280)del - g.109734377_110024284del - ZBTB24_000023 - PubMed: van den Boogaard 2017 - - Germline yes - - - - DNA arrayCNV - - ICF2 Rf1875-2.2 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - IVIG 1 Marlinde L. van den Boogaard
+/. 2 c.47C>G r.(?) p.(Ser16*) Both (homozygous) - pathogenic g.109803183G>C g.109481980G>C - - ZBTB24_000002 - PubMed: de Greef 2011 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: de Greef 2011 - - yes United Kingdom (Great Britain) Scotland - - - - 1 Jun Wang
?/. - c.56A>C r.(?) p.(His19Pro) Unknown - VUS g.109803174T>G g.109481971T>G ZBTB24(NM_001164313.1):c.56A>C (p.(His19Pro)) - ZBTB24_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121T>G r.(?) p.(Leu41Val) Unknown - VUS g.109803109A>C g.109481906A>C ZBTB24(NM_014797.2):c.121T>G (p.L41V) - ZBTB24_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146G>A r.(?) p.Arg49Gln Unknown - NA g.109803084C>T g.109481881C>T - - ZBTB24_000026 Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146G>A r.(?) p.(Arg49Gln) Parent #1 - VUS g.109803084C>T g.109481881C>T - - ZBTB24_000026 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147441359 Germline - 5/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.364G>A r.(?) p.(Val122Ile) Unknown - VUS g.109802866C>T - - - ZBTB24_000040 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.381C>T r.(?) p.(Asp127=) Unknown - likely benign g.109802849G>A g.109481646G>A ZBTB24(NM_014797.2):c.381C>T (p.D127=) - ZBTB24_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.396_397del r.(?) p.(His132Glnfs*20) Both (homozygous) - pathogenic g.109802834_109802835del g.109481631_109481632del 396_397delTA - ZBTB24_000008 - PubMed: Chouery 2012 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: Chouery 2012 family, 3 affected brothers M yes Lebanon - - - - - 3 Jun Wang
-?/. - c.452C>G r.(?) p.Ser151Cys Unknown - NA g.109802778G>C g.109481575G>C - - ZBTB24_000029 Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.485G>A r.(?) p.Arg162Gln Unknown - NA g.109802745C>T g.109481542C>T - - ZBTB24_000030 Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.501dup r.(?) p.(Val168Serfs*28) Both (homozygous) - pathogenic g.109802735dup g.109481532dup - - ZBTB24_000004 - PubMed: de Greef 2011 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: de Greef 2011 - - yes Turkey - - - - - 1 Jun Wang
?/. - c.755G>A r.(?) p.(Arg252Gln) Unknown - VUS g.109802475C>T g.109481272C>T ZBTB24(NM_001164313.1):c.755G>A (p.(Arg252Gln)) - ZBTB24_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.755G>A r.(?) p.(Arg252Gln) Unknown - VUS g.109802475C>T - - - ZBTB24_000018 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. 2 c.759C>G r.(?) p.(Tyr253*) Both (homozygous) - pathogenic g.109802471G>C g.109481268G>C - - ZBTB24_000009 - - - - Germline - - - - - DNA PCR, SEQ - - ICF2 - - - M yes Turkey - - - - - 1 Peter Thijssen
-?/. - c.783C>T r.(?) p.(=) Unknown - likely benign g.109802447G>A - ZBTB24(NM_014797.2):c.783C>T (p.S261=) - ZBTB24_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.833C>G r.(?) p.(Ser278*) Unknown - pathogenic g.109802397G>C g.109481194G>C - - ZBTB24_000006 - PubMed: de Greef 2011 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: de Greef 2011 - - no Germany - - - - - 1 Jun Wang
?/. - c.883C>T r.(?) p.(Arg295Cys) Unknown - VUS g.109802347G>A - ZBTB24(NM_014797.3):c.883C>T (p.R295C) - ZBTB24_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.909dup r.(?) p.(Lys304*) Both (homozygous) - pathogenic g.109802323dup g.109481120dup - - ZBTB24_000010 - PubMed: van den Boogaard 2017 - rs770082593 Germline - - - - - DNA SEQ - - ICF2 Rf1759B-2.1 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - IVIG 1 Marlinde L. van den Boogaard
?/. - c.917A>G r.(?) p.(Asn306Ser) Unknown - VUS g.109802313T>C - - - ZBTB24_000038 - PubMed: Diaz 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat1 PubMed: Diaz 2020 - F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.917del r.(?) p.(Asn306Ilefs*4) Both (homozygous) - pathogenic g.109802314del g.109481111del - - ZBTB24_000001 - PubMed: de Greef 2011 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: de Greef 2011 - - yes Turkey - - - - - 1 Jun Wang
+/. 2 c.917del r.(?) p.(Asn306Ilefs*4) Both (homozygous) - pathogenic g.109802314del g.109481111del - - ZBTB24_000011 - PubMed: van den Boogaard 2017 - - Germline - - - - - DNA SEQ - - ICF2 Rf1225-2.1 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Turkey - - - - IVIG 1 Marlinde L. van den Boogaard
+/. 2 c.917del r.(?) p.(Asn306Ilefs*4) Both (homozygous) - pathogenic g.109802314del g.109481111del - - ZBTB24_000011 - PubMed: van den Boogaard 2017 - - Germline - - - - - DNA SEQ - - ICF2 Rf1461-2.1 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - IVIG 1 Marlinde L. van den Boogaard
+/. 2 c.917del r.(?) p.(Asn306Ilefs*4) Both (homozygous) - pathogenic g.109802314del g.109481111del - - ZBTB24_000011 - PubMed: van den Boogaard 2017 - - Germline - - - - - DNA SEQ - - ICF2 Rf1462-2.1 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - IVIG 1 Marlinde L. van den Boogaard
+/. 3 c.958C>T r.(?) p.(Arg320*) Both (homozygous) - pathogenic g.109798128G>A g.109476925G>A - - ZBTB24_000003 - PubMed: de Greef 2011 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: de Greef 2011 - - yes Turkey - - - - - 1 Jun Wang
+/. - c.958C>T r.(?) p.(Arg320Ter) Unknown - pathogenic g.109798128G>A g.109476925G>A ZBTB24(NM_014797.2):c.958C>T (p.R320*) - ZBTB24_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073C>G r.(?) p.(Ala358Gly) Unknown - VUS g.109798013G>C - ZBTB24(NM_014797.2):c.1073C>G (p.A358G) - ZBTB24_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1148G>A r.(?) p.Cys383Tyr Unknown - NA g.109797434C>T g.109476231C>T - - ZBTB24_000028 Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1149C>T r.(?) p.(Cys383=) Unknown - likely benign g.109797433G>A g.109476230G>A ZBTB24(NM_014797.2):c.1149C>T (p.C383=) - ZBTB24_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1222T>G r.(?) p.(Cys408Gly) Both (homozygous) - pathogenic g.109796668A>C g.109475465A>C - - ZBTB24_000007 - PubMed: Cerbone 2012 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: Cerbone 2012 - M no Morocco - - - - - 1 Johan den Dunnen
+/. 5 c.1222T>G r.(?) p.(Cys408Gly) Unknown - pathogenic g.109796668A>C g.109475465A>C - - ZBTB24_000007 - PubMed: de Greef 2011 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: de Greef 2011 - - no Germany - - - - - 1 Jun Wang
+/. - c.1222T>G r.(?) p.Cys408Gly Unknown - NA g.109796668A>C g.109475465A>C - - ZBTB24_000007 Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1269A>G r.(?) p.(Lys423=) Unknown - likely benign g.109796621T>C g.109475418T>C ZBTB24(NM_014797.2):c.1269A>G (p.K423=) - ZBTB24_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1272T>A r.(?) p.His424Gln Unknown - NA g.109796618A>T g.109475415A>T - - ZBTB24_000024 Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1289-11_1289-6del r.(=) p.(=) Unknown - likely benign g.109788960_109788965del - ZBTB24(NM_014797.2):c.1289-11_1289-6delGTTTTT - MICAL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1369C>T r.(?) p.(Arg457*) Both (homozygous) - pathogenic g.109788857G>A g.109467654G>A - - ZBTB24_000005 - PubMed: de Greef 2011 - - Germline - - - - - DNA SEQ - - ICF2 - PubMed: de Greef 2011 - - yes Italy - - - - - 1 Jun Wang
?/. - c.1376A>G r.(?) p.(Glu459Gly) Unknown - VUS g.109787772T>C g.109466569T>C ZBTB24(NM_014797.2):c.1376A>G (p.E459G) - MICAL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1438C>T r.(?) p.His480Tyr Unknown - NA g.109787710G>A g.109466507G>A - - ZBTB24_000025 Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1457G>A r.(?) p.Gly486Asp Unknown - NA g.109787691C>T g.109466488C>T - - ZBTB24_000022 Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1501C>T r.(?) p.(Arg501Cys) Unknown - VUS g.109787647G>A g.109466444G>A ZBTB24(NM_014797.2):c.1501C>T (p.R501C) - MICAL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1505T>C r.(?) p.(Leu502Ser) Unknown - VUS g.109787643A>G - - - ZBTB24_000041 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1535A>G r.(?) p.(His512Arg) Unknown - VUS g.109787613T>C - ZBTB24(NM_014797.2):c.1535A>G (p.H512R) - MICAL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1552G>A r.(?) p.Ala518Thr Unknown - NA g.109787596C>T g.109466393C>T - - ZBTB24_000027 Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>A r.(?) p.(Asp558Asn) Unknown - likely benign g.109787476C>T g.109466273C>T ZBTB24(NM_014797.2):c.1672G>A (p.D558N, p.(Asp558Asn)) - ZBTB24_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>A r.(?) p.(Asp558Asn) Unknown - likely benign g.109787476C>T g.109466273C>T ZBTB24(NM_014797.2):c.1672G>A (p.D558N, p.(Asp558Asn)) - ZBTB24_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>A r.(?) p.Asp558Asn Unknown - NA g.109787476C>T g.109466273C>T - - ZBTB24_000015 Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral Daxinger, in preparation 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688T>C r.(?) p.(Ile563Thr) Unknown - VUS g.109787460A>G g.109466257A>G ZBTB24(NM_014797.2):c.1688T>C (p.I563T) - ZBTB24_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1702G>A r.(?) p.(Gly568Ser) Unknown - VUS g.109787446C>T g.109466243C>T ZBTB24(NM_014797.2):c.1702G>A (p.G568S) - MICAL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2078G>A r.(?) p.(Gly693Asp) Unknown - likely benign g.109787070C>T g.109465867C>T ZBTB24(NM_014797.2):c.2078G>A (p.G693D) - MICAL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12094G>A r.(=) p.(=) Unknown - likely benign g.109774960C>T - MICAL1(NM_022765.4):c.347G>A (p.(Arg116His)) - MICAL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*15839G>A r.(=) p.(=) Unknown - VUS g.109771215C>T g.109450012C>T MICAL1(NM_001159291.1):c.1007G>A (p.(Arg336Gln)) - MICAL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20907T>C r.(=) p.(=) Unknown - VUS g.109766147A>G g.109444944A>G MICAL1(NM_001159291.1):c.2675T>C (p.(Val892Ala)) - MICAL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*21617G>A r.(=) p.(=) Unknown - likely benign g.109765437C>T - MICAL1(NM_022765.3):c.3161G>A (p.(Arg1054His)) - MICAL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*22432G>A r.(=) p.(=) Unknown - likely benign g.109764622C>T - SMPD2(NM_003080.3):c.882C>T (p.(His294=)) - MICAL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*23223C>G r.(=) p.(=) Unknown - likely benign g.109763831G>C - SMPD2(NM_003080.2):c.491+3G>C (p.?) - MICAL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*23586_*23589del r.(=) p.(=) Unknown - VUS g.109763466_109763469del - SMPD2(NM_003080.3):c.372_375del (p.(His124Glnfs*10)) - MICAL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.