Full data view for gene CSNK2A1

Information The variants shown are described using the NM_001895.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.489195T>C g.508551T>C - - CSNK2A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.79G>A r.(?) p.(Glu27Lys) Unknown - VUS g.489117C>T g.508473C>T - - CSNK2A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.142G>A r.(?) p.(Gly48Ser) Unknown - likely pathogenic g.485833C>T g.505189C>T - - CSNK2A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.149A>G r.(?) p.(Tyr50Cys) Unknown - pathogenic g.485826T>C g.505182T>C CSNK2A1(NM_177559.2):c.149A>G (p.Y50C) - CSNK2A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.149A>G r.(?) p.(Tyr50Cys) Unknown - likely pathogenic g.485826T>C g.505182T>C CSNK2A1(NM_177559.2):c.149A>G (p.Y50C) - CSNK2A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.366_366+3del r.spl? p.? Unknown - likely pathogenic g.479897_479900del g.499253_499256del CSNK2A1(NM_177559.2):c.366_366+3del (p.?) - CSNK2A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.367-2A>G r.spl? p.? Unknown - likely pathogenic g.478426T>C g.497782T>C - - CSNK2A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400C>T r.(?) p.(Arg134Ter) Unknown - VUS g.478391G>A g.497747G>A CSNK2A1(NM_177559.2):c.400C>T (p.R134*) - CSNK2A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.524A>T r.(?) p.(Asp175Val) Unknown - likely pathogenic g.472995T>A g.492351T>A CSNK2A1(NM_001362770.2):c.524A>T (p.D175V) - CSNK2A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593A>G r.(?) p.(Lys198Arg) Unknown - VUS g.472926T>C g.492282T>C CSNK2A1(NM_177559.2):c.593A>G (p.K198R), CSNK2A1(NM_177559.3):c.593A>G (p.K198R) - CSNK2A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.593A>G r.(?) p.(Lys198Arg) Unknown - pathogenic g.472926T>C g.492282T>C CSNK2A1(NM_177559.2):c.593A>G (p.K198R), CSNK2A1(NM_177559.3):c.593A>G (p.K198R) - CSNK2A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.593A>G r.(?) p.(Lys198Arg) Unknown - pathogenic g.472926T>C g.492282T>C CSNK2A1(NM_177559.2):c.593A>G (p.K198R), CSNK2A1(NM_177559.3):c.593A>G (p.K198R) - CSNK2A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.692C>G r.(?) p.(Pro231Arg) Unknown - likely pathogenic g.470455G>C g.489811G>C - - CSNK2A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.723+1G>C r.spl p.? Unknown - likely pathogenic g.470423C>G - - - CSNK2A1_000018 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
+?/. - c.832C>T r.(?) p.(Arg278Ter) Unknown - likely pathogenic g.468212G>A g.487568G>A - - CSNK2A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1045G>A r.(?) p.(Ala349Thr) Unknown - likely benign g.467035C>T - CSNK2A1(NM_001895.4):c.1045G>A (p.A349T) - CSNK2A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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