Full data view for gene CDK19

Information The variants shown are described using the NM_015076.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.83G>A r.(?) p.(Gly28Glu) Unknown - likely pathogenic g.111136257C>T - CDK19(NM_001300960.2):c.83G>A (p.G28E) - AMD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.94T>C r.(?) p.(Tyr32His) Unknown - pathogenic (dominant) g.111136246A>G g.110815043A>G - - CDK19_000007 - PubMed: Chung 2020, Journal: Chung 2020 - - De novo - - - - - DNA SEQ - trio WES ID Proband3 PubMed: Chung 2020, Journal: Chung 2020 2-generation family, 1 affected, unaffected non-carrier parents F no China Asian >01y - - various antiepileptic drugs 1 Joaquin De La Torre Vela
?/. - c.168_173del r.(?) p.(Thr57_Gly58del) Unknown - likely pathogenic (!) g.111067363_111067368del g.110746160_110746165del - - CDK19_000008 - - - - De novo - - - - - DNA SEQ-NG - WES ID 147P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.204+3164T>C r.(=) p.(=) Both (homozygous) - pathogenic g.111064165A>G g.110626360A>G TCTN1 c.342-2A>G, p.G115KfsX8 - TCTN1_000025 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F8-1 PubMed: Alazami 2012 - M yes - - - - - - 1 LOVD
+/. - c.204+3164T>C r.(=) p.(=) Both (homozygous) - pathogenic g.111064165A>G g.110626360A>G TCTN1 c.342-2A>G, p.G115KfsX8 - TCTN1_000025 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F8-2 PubMed: Alazami 2012 - F yes - - - - - - 1 LOVD
+/. - c.204+3164T>C r.(=) p.(=) Both (homozygous) - pathogenic g.111064165A>G g.110626360A>G TCTN1 c.342-2A>G, p.G115KfsX8 - TCTN1_000025 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F9 PubMed: Alazami 2012 - M yes - - - - - - 1 LOVD
?/. - c.209T>C r.(?) p.(Leu70Ser) Unknown - VUS g.110991740A>G - CDK19(NM_001300960.2):c.209T>C (p.L70S) - CDK19_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.316-19G>T r.(=) p.(=) Unknown - benign g.110988796C>A g.110667593C>A CDK19(NM_015076.5):c.316-19G>T - CDK19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.316-18T>A r.(=) p.(=) Unknown - benign g.110988795A>T g.110667592A>T CDK19(NM_015076.5):c.316-18T>A - CDK19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458A>G r.(?) p.(Lys153Arg) Unknown - VUS g.110959908T>C - CDK19(NM_015076.5):c.458A>G (p.K153R) - CDK19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.586A>G r.(?) p.(Thr196Ala) Unknown - pathogenic (dominant) g.110953293T>C g.110632090T>C - - CDK19_000006 - PubMed: Chung 2020, Journal: Chung 2020 - - De novo - - - - - DNA SEQ-NG Brain - ID Proband 1 PubMed: Chung 2020, Journal: Chung 2020 2-generation family, 1 affected, unaffected non-carrier parents F no United States white >25y - - Sdioum valproate, topiramate, and lamotrigine 1 Joaquin De La Torre Vela
+/. 6 c.586A>G r.(?) p.(Thr196Ala) Unknown - pathogenic (dominant) g.110953293T>C g.110632090T>C - - CDK19_000006 - PubMed: Chung 2020, Journal: Chung 2020 - - De novo - - - - - DNA SEQ - - ID Proband 2 PubMed: Chung 2020, Journal: Chung 2020 2-generation family, 1 affected, unaffected non-carrier parents M no China Asian >02y - - antiepileptic drugs, including sodium valproate and topiramate, failed to con- trol the seizures. 1 Joaquin De La Torre Vela
-/. - c.646+17T>C r.(=) p.(=) Unknown - benign g.110953216A>G g.110632013A>G CDK19(NM_015076.5):c.646+17T>C - CDK19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722T>G r.(?) p.(Ile241Arg) Unknown - VUS g.110948273A>C - CDK19(NM_015076.3):c.722T>G (p.(Ile241Arg)) - CDK19_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791-6T>G r.(=) p.(=) Unknown - VUS g.110948054A>C - CDK19(NM_015076.3):c.791-6T>G (p.?) - CDK19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.977C>T r.(?) p.(Ser326Leu) Unknown - VUS g.110944072G>A - CDK19(NM_015076.5):c.977C>T (p.S326L) - CDK19_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377+13T>G r.(=) p.(=) Unknown - likely benign g.110942294A>C g.110621091A>C CDK19(NM_015076.5):c.1377+13T>G - CDK19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1410C>T r.(?) p.(Ser470=) Unknown - likely benign g.110935837G>A g.110614634G>A CDK19(NM_015076.5):c.1410C>T (p.S470=) - CDK19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1457C>T r.(?) p.(Ser486Leu) Unknown - likely benign g.110935790G>A - CDK19(NM_015076.3):c.1457C>T (p.(Ser486Leu)) - CDK19_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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