Full data view for gene DGKE

Information The variants shown are described using the NM_003647.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-13G>A r.(?) p.(=) Unknown - VUS g.54912144G>A g.56834783G>A - - C17orf67_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35C>T r.(?) p.(Pro12Leu) Unknown - likely benign g.54912191C>T g.56834830C>T DGKE(NM_003647.2):c.35C>T (p.P12L), DGKE(NM_003647.3):c.35C>T (p.P12L) - C17orf67_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.35C>T r.(?) p.(Pro12Leu) Unknown - benign g.54912191C>T g.56834830C>T DGKE(NM_003647.2):c.35C>T (p.P12L), DGKE(NM_003647.3):c.35C>T (p.P12L) - C17orf67_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59G>A r.(?) p.(Gly20Glu) Unknown - likely benign g.54912215G>A g.56834854G>A - - C17orf67_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129G>A r.(?) p.(Gln43=) Unknown - likely benign g.54912285G>A g.56834924G>A DGKE(NM_003647.2):c.129G>A (p.Q43=), DGKE(NM_003647.3):c.129G>A (p.Q43=) - C17orf67_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129G>A r.(?) p.(Gln43=) Unknown - likely benign g.54912285G>A g.56834924G>A DGKE(NM_003647.2):c.129G>A (p.Q43=), DGKE(NM_003647.3):c.129G>A (p.Q43=) - C17orf67_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.171del r.(?) p.(Ser58Alafs*111) Parent #1 - likely pathogenic (recessive) g.54912327del g.56834966del 171delG - DGKE_000013 absent from databases - - - Germline ? - - 0 - DNA MLPA, SEQ-NG - - AHUS aHUS_CZ1 - one affected case (aHUS) - no Czech Republic Czech >15y 0 - - 1 Martin Bezdíčka
+?/. - c.178C>G r.(?) p.(His60Asp) Unknown - likely pathogenic g.54912334C>G g.56834973C>G - - C17orf67_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183G>A r.(?) p.(Gly61=) Unknown - benign g.54912339G>A g.56834978G>A - - C17orf67_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235C>G r.(?) p.(Gln79Glu) Unknown - likely benign g.54912391C>G g.56835030C>G DGKE(NM_003647.2):c.235C>G (p.Q79E) - C17orf67_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.465-3C>T r.spl? p.? Unknown - VUS g.54921377C>T g.56844016C>T DGKE(NM_003647.2):c.465-3C>T - DGKE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.465-3C>T r.spl? p.? Unknown - VUS g.54921377C>T g.56844016C>T DGKE(NM_003647.2):c.465-3C>T - DGKE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.494A>G r.(?) p.(Asp165Gly) Both (homozygous) - pathogenic (recessive) g.54921409A>G g.56844048A>G - - DGKE_000005 - PubMed: Lionel 2018 - - Germline - - - 0 - DNA SEQ - WGS ? 28771251-Pat34 PubMed: Lionel 2018 - F - Canada - - 0 - - 1 Johan den Dunnen
-/. - c.579A>C r.(?) p.(Thr193=) Unknown - benign g.54921494A>C g.56844133A>C DGKE(NM_003647.3):c.579A>C (p.T193=) - DGKE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.579A>C r.(?) p.(Thr193=) Unknown - benign g.54921494A>C g.56844133A>C DGKE(NM_003647.3):c.579A>C (p.T193=) - DGKE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.654C>T r.(?) p.(Thr218=) Unknown - VUS g.54923080C>T g.56845719C>T - - DGKE_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744+17del r.(=) p.(=) Unknown - likely benign g.54923187del - DGKE(NM_003647.3):c.744+17delA - DGKE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798T>A r.(?) p.(Leu266=) Unknown - likely benign g.54925336T>A g.56847975T>A - - DGKE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851G>A r.(?) p.(Gly284Glu) Unknown - VUS g.54925389G>A g.56848028G>A DGKE(NM_003647.2):c.851G>A (p.G284E) - DGKE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851G>A r.(?) p.(Gly284Glu) Unknown - VUS g.54925389G>A - DGKE(NM_003647.2):c.851G>A (p.G284E) - DGKE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888+67_888+70dup r.(=) p.(=) Unknown - benign g.54925493_54925496dup g.56848132_56848135dup DGKE(NM_003647.3):c.888+67_888+70dupATAT - DGKE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888+69_888+70dup r.(=) p.(=) Unknown - benign g.54925495_54925496dup g.56848134_56848135dup DGKE(NM_003647.3):c.888+69_888+70dupAT - DGKE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.966G>A r.(?) p.(Trp322*) Parent #2 - pathogenic (recessive) g.54926134G>A g.56848773G>A - - DGKE_000014 - - ClinVar-135641 rs138924661 Germline ? A=0.00006/7 (ExAC) - 0 - DNA MLPA, SEQ-NG - - AHUS aHUS_CZ1 - one affected case (aHUS) - no Czech Republic Czech >15y 0 - - 1 Martin Bezdíčka
?/. - c.1154A>G r.(?) p.(Asn385Ser) Unknown - VUS g.54933928A>G g.56856567A>G - - DGKE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1291C>G r.(?) p.(Leu431Val) Unknown - VUS g.54939158C>G g.56861797C>G 1291C>G - DGKE_000018 - PubMed: Duvvari 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES retinal disease Pat5AB PubMed: Duvvari 2016 patient - - Netherlands white - 0 - - 1 LOVD
+/. - c.1353C>A r.(?) p.(Tyr451Ter) Unknown - pathogenic g.54939220C>A g.56861859C>A - - DGKE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1406T>C r.(?) p.(Leu469Pro) Unknown - likely benign g.54939273T>C g.56861912T>C DGKE(NM_003647.3):c.1406T>C (p.L469P) - DGKE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1525-15G>A r.(=) p.(=) Unknown - likely benign g.54939958G>A g.56862597G>A - - DGKE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1679A>G r.(?) p.(Gln560Arg) Unknown - likely benign g.54940127A>G g.56862766A>G DGKE(NM_003647.2):c.1679A>G (p.Q560R), DGKE(NM_003647.3):c.1679A>G (p.Q560R) - DGKE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1679A>G r.(?) p.(Gln560Arg) Unknown - likely benign g.54940127A>G - DGKE(NM_003647.2):c.1679A>G (p.Q560R), DGKE(NM_003647.3):c.1679A>G (p.Q560R) - DGKE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1679A>G r.(?) p.(Gln560Arg) Unknown - likely benign g.54940127A>G - DGKE(NM_003647.2):c.1679A>G (p.Q560R), DGKE(NM_003647.3):c.1679A>G (p.Q560R) - DGKE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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