Transcript #00002685

Transcript name apolipoprotein B (including Ag(x) antigen)
Gene name APOB (apolipoprotein B (including Ag(x) antigen))
Chromosome 2
Transcript - NCBI ID NM_000384.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000375.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

896 entries on 9 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-393T>C benign r.(?) p.(=)
?/? _1 c.-644C>T VUS r.(?) p.(?)
?/? _1 c.-644C>T VUS r.(?) p.(?)
-/. - c.-11C>G benign r.(?) p.(=)
+/. - c.18_25del pathogenic r.(?) p.(Ala7Glyfs*48)
+/. - c.28del pathogenic r.(?) p.(Ala10Argfs*83)
-/. - c.35T>C benign r.(?) p.(Leu12Pro)
-/. - c.35_43del benign r.(?) p.(Leu12_Leu14del)
-/. - c.35_43del benign r.(?) p.(Leu12_Leu14del)
?/. - c.35_43dup VUS r.(?) p.(Leu12_Leu14dup)
-/. - c.36G>T benign r.(?) p.(=)
+/. - c.44del pathogenic r.(?) p.(Pro15Leufs*78)
?/. - c.44_49del VUS r.(?) p.(Pro15_Ala16del)
+/. - c.47_48insT pathogenic r.(?) p.(Leu17Alafs*41)
-?/. - c.61_66dup likely benign r.(?) p.(Leu21_Leu22dup)
-/. - c.64_66del benign r.(?) p.(Leu22del)
-/. - c.64_66dup benign r.(?) p.(Leu22dup)
+/. - c.73del pathogenic (recessive) r.(?) p.(Ala25Profs*68)
+/+ 1i c.82+1G>A pathogenic r.(spl?) p.(?)
+/? 1i c.82+1G>C pathogenic r.(spl?) p.(?)
+/+? 1i c.82+1G>C pathogenic r.spl? p.?
-/. - c.82+8C>G benign r.(=) p.(=)
-?/. - c.82+16C>T likely benign r.(=) p.(=)
-?/. - c.107G>C likely benign r.(?) p.(Ser36Thr)
-?/. - c.121+16A>G likely benign r.(=) p.(=)
-/. - c.121+221G>A benign r.(=) p.(=)
-?/. - c.122-170T>A likely benign r.(=) p.(=)
-?/. - c.129G>C likely benign r.(?) p.(=)
-/. - c.129G>C benign r.(?) p.(=)
-/. - c.129G>C benign r.(?) p.(=)
-?/. - c.141G>A likely benign r.(?) p.(=)
+/+ 3 c.148C>T pathogenic r.(?) p.(Arg50Trp)
+/+ 3 c.158_163del pathogenic r.? p.Thr53_Tyr54del
+/+ 3 c.172G>C pathogenic r.(?) p.(Ala58Pro)
+/. - c.237+1G>A pathogenic r.spl? p.?
-?/. - c.237+92G>T likely benign r.(=) p.(=)
-?/. - c.237+296A>C likely benign r.(=) p.(=)
-?/. - c.238-6T>C likely benign r.(=) p.(=)
-?/. - c.253C>T likely benign r.(?) p.(Pro85Ser)
+?/. - c.289T>G likely pathogenic (recessive) r.(?) p.(Cys97Gly)
?/? 4 c.293C>T VUS r.(?) p.(?)
-/. - c.293C>T benign r.(?) p.(Thr98Ile)
-/. - c.293C>T benign r.(?) p.(Thr98Ile)
-?/. - c.307T>C likely benign r.(?) p.(Tyr103His)
-?/. - c.344A>T likely benign r.(?) p.(Lys115Ile)
-?/. - c.354C>A likely benign r.(?) p.(Asn118Lys)
-?/. - c.383+171A>C likely benign r.(=) p.(=)
-?/. - c.400G>T likely benign r.(?) p.(Ala134Ser)
-?/. - c.403A>G likely benign r.(?) p.(Ile135Val)
-/. - c.433C>T benign r.(?) p.(Pro145Ser)
-/. - c.434C>T benign r.(?) p.(Pro145Leu)
?/. - c.434C>T VUS r.(?) p.(Pro145Leu)
?/. 5 c.499C>T - r.(?) p.(Pro167Ser)
+/+ 5i c.537+1G>T pathogenic r.(?) p.(?)
+/+? 5i c.537+1G>T pathogenic r.(?) p.(?)
+/+ 5i c.537+1G>T pathogenic r.(?) p.(?)
-/. - c.537+17C>T benign r.(=) p.(=)
-?/. - c.537+229C>T likely benign r.(=) p.(=)
-?/. - c.537+301dup likely benign r.(=) p.(=)
-/. - c.538-9C>T benign r.(=) p.(=)
-?/. - c.544G>A likely benign r.(?) p.(Val182Met)
-?/. - c.571A>G likely benign r.(?) p.(Thr191Ala)
-?/. - c.581C>T likely benign r.(?) p.(Thr194Met)
-/. - c.606A>T benign r.(?) p.(Glu202Asp)
-/. - c.607A>G benign r.(?) p.(Ile203Val)
+/. - c.614del pathogenic (recessive) r.(?) p.(Thr205Metfs*27)
-?/. - c.641G>A likely benign r.(?) p.(Arg214His)
-?/. - c.646A>G likely benign r.(?) p.(Lys216Glu)
?/. - c.649C>T VUS r.(?) p.(Pro217Ser)
-?/. - c.656G>T likely benign r.(?) p.(Arg219Leu)
-?/. - c.656G>T likely benign r.(?) p.(Arg219Leu)
-/. - c.693+213C>T benign r.(=) p.(=)
-/. - c.693+360T>C benign r.(=) p.(=)
-?/. - c.693+410A>G likely benign r.(=) p.(=)
-/. - c.694-20G>A benign r.(=) p.(=)
-/. - c.694-8T>C benign r.(=) p.(=)
+?/. - c.733T>G likely pathogenic r.(?) p.(Cys245Gly)
-?/. - c.738G>A likely benign r.(?) p.(=)
-/- 7 c.751G>A benign r.? p.(Ala251Thr)
-/. - c.751G>A benign r.(?) p.(Ala251Thr)
?/. - c.819-7T>C VUS r.(=) p.(=)
+/+? 7i c.819-2G>A pathogenic r.(?) p.(?)
-?/. - c.854C>G likely benign r.(?) p.(Thr285Ser)
-?/. - c.895T>G likely benign r.(?) p.(Phe299Val)
?/. - c.895T>G VUS r.(?) p.(Phe299Val)
-?/. - c.900T>C likely benign r.(?) p.(=)
-/. - c.900T>C benign r.(?) p.(=)
+/+ 8i c.904+4A>G pathogenic r.819_904del p.(?)
-/. - c.904+11C>G benign r.(=) p.(=)
-?/? 8i c.904+28G>A likely benign r.(?) p.(?)
-?/. - c.905-99T>A likely benign r.(=) p.(=)
-/. - c.905-16A>C benign r.(=) p.(=)
-?/. - c.905-15C>G likely benign r.(=) p.(=)
-/. - c.905-15C>G benign r.(=) p.(=)
+/+? 8i c.905-1_905dupGG pathogenic r.spl? p.(T303Vfs*)
-/. - c.924C>T benign r.(?) p.(=)
-?/. - c.925G>A likely benign r.(?) p.(Ala309Thr)
+/+? 9 c.961C>T pathogenic r.(?) p.(Gln321*)
+/+? 9 c.1014_1015del pathogenic r.(?) p.(Glu339Alafs*7)
+/+? 9 c.1019_1026del pathogenic r.(?) p.(Gln340Profs*4)
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