Transcript #00001866

Transcript name ATP-binding cassette, sub-family B (MDR/TAP), member 11
Gene name ABCB11 (ATP-binding cassette, sub-family B (MDR/TAP), member 11)
Chromosome 2
Transcript - NCBI ID NM_003742.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003733.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

63 entries on 1 page. Showing entries 1 - 63.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.76+152C>T VUS r.(=) p.(=)
-?/. - c.127G>A likely benign r.(?) p.(Val43Ile)
+?/. - c.192G>A likely pathogenic r.(?) p.(=)
?/. - c.206C>T VUS r.(?) p.(Ala69Val)
-/. - c.270T>C benign r.(?) p.(=)
-/. - c.270T>C benign r.(?) p.(=)
-/. - c.389+8G>A benign r.(=) p.(=)
-/. - c.389+8G>A benign r.(=) p.(=)
-?/. - c.389+8G>A likely benign r.(=) p.(=)
-?/. - c.499G>T likely benign r.(?) p.(Ala167Ser)
?/. - c.500C>T VUS r.(?) p.(Ala167Val)
?/. - c.612-11C>G VUS r.(=) p.(=)
-?/. - c.695T>C likely benign r.(?) p.(Leu232Pro)
+/. - c.890A>G pathogenic r.(?) p.(Glu297Gly)
+/. - c.890A>G pathogenic r.(?) p.(Glu297Gly)
+/. - c.890A>G pathogenic r.(?) p.(Glu297Gly)
?/. - c.908+1G>C VUS r.spl? p.?
-/. - c.909-17G>A benign r.(=) p.(=)
-/. - c.909-15A>G benign r.(=) p.(=)
-/. - c.909-15A>G benign r.(=) p.(=)
+/. - c.909-1G>A pathogenic r.spl? p.?
-/. - c.957A>G benign r.(?) p.(=)
-?/. - c.1084-13_1084-12del likely benign r.(=) p.(=)
-?/. - c.1308+12T>C likely benign r.(=) p.(=)
-/. - c.1331T>C benign r.(?) p.(Val444Ala)
+/. - c.1408C>T pathogenic r.(?) p.(Arg470*)
+/. - c.1445A>G pathogenic r.(?) p.(Asp482Gly)
+/. - c.1460G>A pathogenic r.(?) p.(Arg487His)
-/. - c.1639-152G>A benign r.(=) p.(=)
?/. - c.1723C>T VUS r.(?) p.(Arg575*)
+/. - c.1723C>T pathogenic r.(?) p.(Arg575*)
+/. - c.1753G>A pathogenic r.(?) p.(Ala585Thr)
-?/. - c.1772A>G likely benign r.(?) p.(Asn591Ser)
-?/. - c.1791G>T likely benign r.(?) p.(=)
+?/. - c.1907A>G likely pathogenic r.(?) p.(Glu636Gly)
-?/. - c.1977G>A likely benign r.(?) p.(=)
-?/. - c.2029A>G likely benign r.(?) p.(Met677Val)
-?/. - c.2063A>G likely benign r.(?) p.(Gln688Arg)
-?/. - c.2086C>A likely benign r.(?) p.(=)
-?/. - c.2093G>A likely benign r.(?) p.(Arg698His)
-?/. - c.2134T>C likely benign r.(?) p.(=)
-/. - c.2134T>C benign r.(?) p.(=)
?/. - c.2135T>C VUS r.(?) p.(Leu712Ser)
-/. - c.2179-17C>A benign r.(=) p.(=)
-/. - c.2179-17C>A benign r.(=) p.(=)
+/. - c.2324del pathogenic r.(?) p.(Leu775Tyrfs*29)
-/. - c.2344-17T>C benign r.(=) p.(=)
-/. - c.2344-17T>C benign r.(=) p.(=)
-/. - c.2412A>G benign r.(?) p.(=)
-/. - c.2594C>T benign r.(?) p.(Ala865Val)
?/. - c.2610+4A>C VUS r.spl? p.?
?/. - c.2612C>T VUS r.(?) p.(Ala871Val)
?/. - c.2665G>A VUS r.(?) p.(Ala889Thr)
+?/. - c.3011G>A likely pathogenic r.(?) p.(Gly1004Asp)
-/. - c.3084A>G benign r.(?) p.(=)
-/. - c.3084A>G benign r.(?) p.(=)
-/. - c.3330G>A benign r.(?) p.(=)
+/. - c.3457C>T pathogenic r.(?) p.(Arg1153Cys)
+/. - c.3457C>T pathogenic r.(?) p.(Arg1153Cys)
+?/. - c.3458G>A likely pathogenic r.(?) p.(Arg1153His)
-?/. - c.3618+19C>T likely benign r.(=) p.(=)
+?/. - c.3628A>C likely pathogenic r.(?) p.(Thr1210Pro)
+/. - c.3669G>C pathogenic r.(?) p.(Glu1223Asp)
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