Full data view for gene CEBPA

Information The variants shown are described using the NM_004364.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.141C>G r.(=) p.(=) Parent #2 g.33793180G>C - CEBPA_000013 - - - - - - - DNA SEQ-NG-I 1 BrCa, CC - F Kardamyla, Chios - Greek no - 1 Despoina Kalfakakou
./. - c.252C>G r.(?) p.(His84Gln) Parent #2 g.33793069G>C - CEBPA_000011 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Lamia Agrafa Greek no - 1 Despoina Kalfakakou
./. - c.308_313del r.(?) p.(Gly103_Gly104del) Parent #2 g.33793008_33793013del - CEBPA_000009 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Geraneia, Elassona - Greek no - 1 Despoina Kalfakakou
./. - c.308_313del r.(?) p.(Gly103_Gly104del) Parent #2 g.33793008_33793013del - CEBPA_000009 - - - - - - - DNA SEQ-NG-I 1 - - M - - - no - 1 Despoina Kalfakakou
./. - c.369A>G r.(=) p.(=) Parent #2 g.33792952T>C - CEBPA_000016 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Evros - Greek no - 1 Despoina Kalfakakou
./. - c.382C>T r.(?) p.(Pro128Ser) Parent #2 g.33792939G>A - CEBPA_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.382C>T r.(?) p.(Pro128Ser) Parent #2 g.33792939G>A - CEBPA_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Raches, Gortynia Athens Greek no - 1 Despoina Kalfakakou
./. - c.382C>T r.(?) p.(Pro128Ser) Parent #2 g.33792939G>A - CEBPA_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Markopoulo, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.382C>T r.(?) p.(Pro128Ser) Parent #2 g.33792939G>A - CEBPA_000003 - - - - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 3 Despoina Kalfakakou
./. - c.382C>T r.(?) p.(Pro128Ser) Parent #2 g.33792939G>A - CEBPA_000003 - - - - - - - DNA SEQ-NG-I 1 RCC - M Rethimno, Crete Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.396C>T r.(=) p.(=) Parent #2 g.33792925G>A - CEBPA_000005 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.33792820C>T - CEBPA_000004 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.522G>A r.(=) p.(=) Parent #2 g.33792799C>T - CEBPA_000012 - - - - - - - DNA SEQ-NG-I 1 BrCa, SCT - F Athens Crete Greek no - 1 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Asia Minor Greek no - 3 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 BrainCa, ColPol - M Naxos - German-Greek no - 1 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 ENC - F Marathea, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 TRC - F Monacho - German no - 1 Despoina Kalfakakou
./. - c.561G>C r.(=) p.(=) Parent #2 g.33792760C>G - CEBPA_000007 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Nemea - Greek no - 1 Despoina Kalfakakou
./. - c.588G>C r.(=) p.(=) Parent #2 g.33792733C>G - CEBPA_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.588G>C r.(=) p.(=) Parent #2 g.33792733C>G - CEBPA_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.588G>C r.(=) p.(=) Parent #2 g.33792733C>G - CEBPA_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Ellotia, Thiva - Greek no - 1 Despoina Kalfakakou
./. - c.588G>C r.(=) p.(=) Parent #2 g.33792733C>G - CEBPA_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Argos Greek no - 1 Despoina Kalfakakou
./. - c.588G>C r.(=) p.(=) Parent #2 g.33792733C>G - CEBPA_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa, Pella - Greek no - 1 Despoina Kalfakakou
./. - c.589_590insACCCGC r.(?) p.(His195_Pro196dup) Parent #2 g.33792731_33792732insGCGGGT - CEBPA_000010 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens Nea Kios, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.589_590insACCCGC r.(?) p.(His195_Pro196dup) Parent #2 g.33792731_33792732insGCGGGT - CEBPA_000010 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno - Greek no - 1 Despoina Kalfakakou
./. - c.589_590insACCCGC r.(?) p.(His195_Pro196dup) Parent #2 g.33792731_33792732insGCGGGT - CEBPA_000010 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.604del r.(?) p.(Ala202Profs*116) Parent #2 g.33792717del - CEBPA_000006 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.604del r.(?) p.(Ala202Profs*116) Parent #2 g.33792717del - CEBPA_000006 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Ellotia, Thiva - Greek no - 1 Despoina Kalfakakou
./. - c.604del r.(?) p.(Ala202Profs*116) Parent #2 g.33792717del - CEBPA_000006 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.604del r.(?) p.(Ala202Profs*116) Parent #2 g.33792717del - CEBPA_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.604del r.(?) p.(Ala202Profs*116) Parent #2 g.33792717del - CEBPA_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Argos Greek no - 1 Despoina Kalfakakou
./. - c.762G>A r.(=) p.(=) Parent #2 g.33792559C>T - CEBPA_000008 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.762G>A r.(=) p.(=) Parent #2 g.33792559C>T - CEBPA_000008 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Daimonia, Laconia Floka, Laconia Greek no - 3 Despoina Kalfakakou
./. - c.762G>A r.(=) p.(=) Parent #2 g.33792559C>T - CEBPA_000008 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Acharnes - Greek no - 1 Despoina Kalfakakou
./. - c.768G>C r.(=) p.(=) Parent #2 g.33792553C>G - CEBPA_000015 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Halki Thessalia & Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.918C>A r.(=) p.(=) Parent #2 g.33792403G>T - CEBPA_000014 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1018G>A r.(?) p.(Gly340Ser) Parent #2 g.33792303C>T - CEBPA_000018 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Fournoi, Icaria Cyprus Chios Greek no - 2 Despoina Kalfakakou
./. - c.*37G>A r.(=) p.(=) Parent #2 g.33792207C>T - CEBPA_000017 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Elassona, Larisa Livera, Kozani Greek no - 1 Despoina Kalfakakou
Legend