All variants in the CEBPA gene

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

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-90C>T r.(?) p.(=) - likely benign g.33793410G>A g.33302504G>A CEBPA(NM_001287424.1):c.16C>T (p.R6*) - CEBPA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.24G>A r.(?) p.(Glu8=) - likely benign g.33793297C>T g.33302391C>T CEBPA(NM_004364.3):c.24G>A (p.E8=) - CEBPA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.175G>T r.(?) p.(Glu59Ter) - VUS g.33793146C>A g.33302240C>A CEBPA(NM_004364.3):c.175G>T (p.E59*) - CEBPA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.259C>T r.(?) p.(Gln87Ter) - VUS g.33793062G>A g.33302156G>A CEBPA(NM_004364.3):c.259C>T (p.Q87*) - CEBPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.311_313del r.(?) p.(Gly104del) - likely benign g.33793024_33793026del g.33302118_33302120del CEBPA(NM_004364.3):c.311_313delGCG (p.G104del) - CEBPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.402G>A r.(?) p.(Ala134=) - likely benign g.33792919C>T g.33302013C>T CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.3):c.402G>A (p.A134=) - CEBPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.402G>A r.(?) p.(Ala134=) - likely benign g.33792919C>T - CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.3):c.402G>A (p.A134=) - CEBPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.402G>A r.(?) p.(Ala134=) - likely benign g.33792919C>T - CEBPA(NM_001285829.1):c.45G>A (p.A15=), CEBPA(NM_004364.3):c.402G>A (p.A134=) - CEBPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.421G>T r.(?) p.(Gly141Cys) - likely benign g.33792900C>A g.33301994C>A CEBPA(NM_001285829.1):c.64G>T (p.G22C), CEBPA(NM_004364.3):c.421G>T (p.G141C) - CEBPA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.421G>T r.(?) p.(Gly141Cys) - likely benign g.33792900C>A - CEBPA(NM_001285829.1):c.64G>T (p.G22C), CEBPA(NM_004364.3):c.421G>T (p.G141C) - CEBPA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.573C>T r.(?) p.(His191=) - VUS g.33792748G>A g.33301842G>A CEBPA(NM_004364.3):c.573C>T (p.(=), p.H191=) - CEBPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.573C>T r.(?) p.(His191=) - benign g.33792748G>A - CEBPA(NM_004364.3):c.573C>T (p.(=), p.H191=) - CEBPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.584_589dup r.(?) p.(His195_Pro196dup) - likely benign g.33792747_33792752dup g.33301841_33301846dup CEBPA(NM_004364.3):c.584_589dupACCCGC (p.H195_P196dup), CEBPA(NM_004364.3):c.589_590insACCCGC (p.(His195_Pro196dup)) - CEBPA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.584_589dup r.(?) p.(His195_Pro196dup) - benign g.33792747_33792752dup - CEBPA(NM_004364.3):c.584_589dupACCCGC (p.H195_P196dup), CEBPA(NM_004364.3):c.589_590insACCCGC (p.(His195_Pro196dup)) - CEBPA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.590_591insACCCGC r.(?) p.(Pro198_Ala199dup) - VUS g.33792731_33792732insCGGGTG g.33301825_33301826insCGGGTG CEBPA(NM_004364.3):c.590_591insACCCGC (p.P198_A199dup) - CEBPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.640G>A r.(?) p.(Gly214Ser) - likely benign g.33792681C>T g.33301775C>T CEBPA(NM_004364.3):c.640G>A (p.G214S) - CEBPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.693C>G r.(?) p.(Pro231=) - VUS g.33792628G>C g.33301722G>C CEBPA(NM_004364.3):c.693C>G (p.(=), p.P231=) - CEBPA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.693C>G r.(?) p.(Pro231=) - benign g.33792628G>C g.33301722G>C CEBPA(NM_004364.3):c.693C>G (p.(=), p.P231=) - CEBPA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.693C>G r.(?) p.(Pro231=) - benign g.33792628G>C - CEBPA(NM_004364.3):c.693C>G (p.(=), p.P231=) - CEBPA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.756G>T r.(?) p.(Ala252=) - VUS g.33792565C>A g.33301659C>A CEBPA(NM_004364.3):c.756G>T (p.(=), p.A252=) - CEBPA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.756G>T r.(?) p.(Ala252=) - benign g.33792565C>A g.33301659C>A CEBPA(NM_004364.3):c.756G>T (p.(=), p.A252=) - CEBPA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.756G>T r.(?) p.(Ala252=) - benign g.33792565C>A - CEBPA(NM_004364.3):c.756G>T (p.(=), p.A252=) - CEBPA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.898C>T r.(?) p.(Arg300Cys) - VUS g.33792423G>A g.33301517G>A CEBPA(NM_004364.3):c.898C>T (p.R300C) - CEBPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.949_950insGTC r.(?) p.(Glu316_Leu317insArg) - VUS g.33792372_33792373insACG g.33301466_33301467insACG CEBPA(NM_004364.3):c.949_950insGTC (p.E316_L317insR) - CEBPA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1041G>A r.(?) p.(Glu347=) - VUS g.33792280C>T g.33301374C>T CEBPA(NM_004364.3):c.1041G>A (p.(=), p.E347=) - CEBPA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1041G>A r.(?) p.(Glu347=) - benign g.33792280C>T g.33301374C>T CEBPA(NM_004364.3):c.1041G>A (p.(=), p.E347=) - CEBPA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1041G>A r.(?) p.(Glu347=) - benign g.33792280C>T - CEBPA(NM_004364.3):c.1041G>A (p.(=), p.E347=) - CEBPA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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