Full data view for gene CSNK2B

Information The variants shown are described using the NM_001320.5 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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     
?/. - c.-7093C>G r.(?) p.(=) Unknown - VUS g.31626904C>G g.31659127C>G C6orf47(NM_021184.3):c.821G>C (p.(Trp274Ser)) - C6orf47_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6330T>C r.(?) p.(=) Unknown - VUS g.31627667T>C g.31659890T>C C6orf47(NM_021184.3):c.58A>G (p.(Met20Val)) - C6orf47_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3827C>T r.(?) p.(=) Unknown - likely benign g.31630170C>T g.31662393C>T GPANK1(NM_001199237.1):c.944G>A (p.(Arg315Gln)) - APOM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3826G>A r.(?) p.(=) Unknown - VUS g.31630171G>A g.31662394G>A GPANK1(NM_001199237.1):c.943C>T (p.(Arg315Ter)) - APOM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.13G>T r.(?) p.(Glu5*) Unknown - pathogenic g.31634621G>T g.31666844G>T - - CSNK2B_000010 - - - - De novo - - - - - DNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
?/. - c.83A>G r.(?) p.(Asp28Gly) Unknown - VUS g.31635655A>G - CSNK2B(NM_001320.7):c.83A>G (p.D28G) - CSNK2B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.91C>T r.(?) p.(Gln31*) Unknown - likely pathogenic g.31635663C>T - CSNK2B(NM_001282385.1):c.91C>T (p.(Gln31*)) - CSNK2B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.107T>C r.(?) p.(Leu36Pro) Unknown - likely pathogenic g.31635679T>C - - - CSNK2B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.137A>G r.(?) p.(Tyr46Cys) Unknown - VUS g.31635709A>G - - - CSNK2B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.139C>T r.(?) p.(Arg47*) Unknown - pathogenic g.31635711C>T - CSNK2B(NM_001320.7):c.139C>T (p.(Arg47*)) - CSNK2B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.161T>A r.(?) p.(Leu54Ter) Unknown - likely pathogenic g.31635733T>A g.31667956T>A CSNK2B(NM_001320.7):c.161T>A (p.L54*) - CSNK2B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.175+2T>G r.73_175del p.Val25Metfs*13 Unknown - likely pathogenic g.31635749T>G g.31667972T>G - - CSNK2B_000001 - PubMed: Poirier 2017, Journal: Poirier 2017 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - ID 28585349-FamPat2 PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Karine Poirier
+?/. - c.256C>T r.(?) p.(Arg86Cys) Unknown - likely pathogenic g.31636396C>T - CSNK2B(NM_001320.7):c.256C>T (p.(Arg86Cys), p.R86C) - CSNK2B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.256C>T r.(?) p.(Arg86Cys) Unknown - pathogenic g.31636396C>T - CSNK2B(NM_001320.7):c.256C>T (p.(Arg86Cys), p.R86C) - CSNK2B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.261C>A r.(?) p.(Tyr87*) Unknown - likely pathogenic g.31636401C>A - - - CSNK2B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.265del r.(?) p.(Thr90Profs*44) Unknown - pathogenic g.31636405del g.31668628del 264delC - CSNK2B_000005 - - - - De novo - - - - - DNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
+?/. - c.304C>T r.(?) p.(Gln102*) Unknown - likely pathogenic g.31636886C>T - CSNK2B(NM_001320.7):c.304C>T (p.Q102*) - CSNK2B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.304C>T r.304c>u p.Gln102Ter Paternal (confirmed) - pathogenic (dominant) g.31636886C>T g.31669109C>T - - CSNK2B_000023 monoallelic expression PubMed: Dekker 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES trio NDD FamPat2 PubMed: Dekker 2023 2-generation family, affected sister/brother and father F no Netherlands - - - - - 3 Johan den Dunnen
+/. - c.304C>T r.(304c>u) p.(Gln102Ter) Paternal (confirmed) - pathogenic (dominant) g.31636886C>T g.31669109C>T - - CSNK2B_000023 - PubMed: Dekker 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - NDD FamPatB PubMed: Dekker 2023 brother M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.304C>T r.(304c>u) p.(Gln102Ter) Unknown - pathogenic (dominant) g.31636886C>T g.31669109C>T - - CSNK2B_000023 - PubMed: Dekker 2023 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - NDD FamPatF PubMed: Dekker 2023 father M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.332G>C r.(?) p.(Arg111Pro) Unknown - pathogenic g.31636914G>C g.31669137G>C - - CSNK2B_000009 - - - - De novo - - - - - DNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
+?/. 5i c.367+2T>C r.[292_367del,367_368ins[gc;367+3_368-1] p.? Unknown - likely pathogenic g.31636951T>C g.31669174T>C - - CSNK2B_000002 - PubMed: Poirier 2017, Journal: Poirier 2017 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ID 28585349-FamPat1 PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Karine Poirier
?/. - c.368-4C>A r.spl? p.? Unknown - VUS g.31637092C>A - CSNK2B(NM_001320.7):c.368-4C>A - CSNK2B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368-2A>G r.spl p.? Unknown - pathogenic g.31637094A>G g.31669317A>G - - CSNK2B_000004 - - - - De novo - - - - - DNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
+/. - c.409T>G r.(?) p.(Cys137Gly) Unknown - pathogenic g.31637137T>G g.31669360T>G - - CSNK2B_000006 - - - - De novo - - - - - DNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
+/. - c.410G>T r.(?) p.(Cys137Phe) Unknown - pathogenic g.31637138G>T g.31669361G>T - - CSNK2B_000007 - - - - De novo - - - - - RNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
+/. - c.416del r.(?) p.(Lys139Serfs*88) Unknown - pathogenic g.31637144del - CSNK2B(NM_001320.7):c.416delA (p.K139Sfs*88) - CSNK2B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.446C>G r.(?) p.(Ser149*) Paternal (confirmed) ACMG VUS (!) g.31637174C>G - - - CSNK2B_000018 ACMG: PVS1, PM2_SUP; BS2; conflicting evidence! variant was inherited from the apparently unaffected father, all previously published path variants in CSNK2B were de novo - - - Germline ? - LanerMGZ - - DNA SEQ-NG-I - - POBINDS 196081 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.497T>G r.(?) p.(Met166Arg) Unknown - likely pathogenic g.31637225T>G - - - CSNK2B_000022 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557G>C r.(?) p.(Arg186Thr) Unknown - VUS g.31637285G>C - CSNK2B(NM_001320.7):c.557G>C (p.R186T) - CSNK2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.557+1G>A r.spl? p.? Unknown - likely pathogenic g.31637286G>A g.31669509G>A - - CSNK2B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.558-2A>G r.spl? p.? Unknown - likely pathogenic g.31637611A>G - - - CSNK2B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.558-1G>C r.spl? p.? Unknown - pathogenic g.31637612G>C - CSNK2B(NM_001320.7):c.558-1G>C - CSNK2B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.560T>G r.(?) p.(Leu187Arg) Unknown - likely pathogenic g.31637615T>G g.31669838T>G - - CSNK2B_000008 - - - - De novo - - - - - DNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
?/. - c.586G>C r.(?) p.(Ala196Pro) Unknown - VUS g.31637641G>C - - - CSNK2B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.621dup r.(?) p.(Lys208Glnfs*38) Unknown - pathogenic g.31637676dup g.31669899dup 620_621insC - CSNK2B_000011 - - - - De novo - - - - - DNA SEQ-NG-I - - epilepsy - - - - - China - - - - - 1 Jinliang Li
+/. - c.621dup r.(?) p.(Lys208Glnfs*38) Unknown - pathogenic g.31637676dup - - - CSNK2B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1301T>C r.(=) p.(=) Unknown - VUS g.31639004T>C - LY6G5B(NM_021221.2):c.130T>C (p.(Ser44Pro)) - CSNK2B_000025 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.