Unique variants in gene CEBPA

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? 1 - c.141C>G r.(=) p.(=) g.33793180G>C - CEBPA_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.252C>G r.(?) p.(His84Gln) g.33793069G>C - CEBPA_000011 rs878854700 - Germline - - - - Despoina Kalfakakou
./., ?/? 3 - c.308_313del r.(?) p.(Gly103_Gly104del) g.33793008_33793013del - CEBPA_000009 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.369A>G r.(=) p.(=) g.33792952T>C - CEBPA_000016 - - Germline - - - - Despoina Kalfakakou
?/? 5 - c.382C>T r.(?) p.(Pro128Ser) g.33792939G>A - CEBPA_000003 rs1362518517 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.396C>T r.(=) p.(=) g.33792925G>A - CEBPA_000005 rs1060504475 - Germline - - - - Despoina Kalfakakou
./. 1 - c.451G>T r.(?) p.(Gly151Trp) g.33792870C>A - CEBPA_000019 - - - - - - - Stevi Xera
-?/-? 1 - c.501G>A r.(=) p.(=) g.33792820C>T - CEBPA_000004 rs1277875501 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.522G>A r.(=) p.(=) g.33792799C>T - CEBPA_000012 rs1272249243 - Germline - - - - Despoina Kalfakakou
-/- 8 - c.561G>C r.(=) p.(=) g.33792760C>G - CEBPA_000007 rs538441046 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.588G>C r.(=) p.(=) g.33792733C>G - CEBPA_000001 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.589_590insACCCGC r.(?) p.(His195_Pro196dup) g.33792731_33792732insGCGGGT - CEBPA_000010 - - Germline - - - - Despoina Kalfakakou
+/+ 5 - c.604del r.(?) p.(Ala202Profs*116) g.33792717del - CEBPA_000006 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.762G>A r.(=) p.(=) g.33792559C>T - CEBPA_000008 rs1366451304 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.768G>C r.(=) p.(=) g.33792553C>G - CEBPA_000015 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.918C>A r.(=) p.(=) g.33792403G>T - CEBPA_000014 rs773844593 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1018G>A r.(?) p.(Gly340Ser) g.33792303C>T - CEBPA_000018 rs375833261 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*37G>A r.(=) p.(=) g.33792207C>T - CEBPA_000017 rs767166906 - Germline - - - - Despoina Kalfakakou
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