Transcript #00024077

Transcript name transcript variant B
Gene name ABCB4 (ATP-binding cassette, sub-family B (MDR/TAP), member 4)
Chromosome 7
Transcript - NCBI ID NM_018849.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_061337.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

49 entries on 1 page. Showing entries 1 - 49.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.140G>A pathogenic r.(?) p.(Arg47Gln)
-/. - c.175C>T benign r.(?) p.(=)
./. - c.337A>G - r.(?) p.(Met113Val)
+/+ 6 c.394_400del - r.394_400del p.Tyr132Lysfs*29
-/. - c.504C>T benign r.(?) p.(=)
-/. - c.504C>T benign r.(?) p.(=)
-?/. - c.523A>G likely benign r.(?) p.(Thr175Ala)
-/. - c.696C>T benign r.(?) p.(=)
-/. - c.711A>T benign r.(?) p.(=)
+?/. - c.832A>G - r.(?) p.(Arg278Gly)
+?/. - c.959C>T likely pathogenic r.(?) p.(Ser320Phe)
+/. - c.959C>T pathogenic r.(?) p.(Ser320Phe)
?/. - c.1229A>G VUS r.(?) p.(Lys410Arg)
+?/. - c.1280T>C - r.(?) p.(Leu427Pro)
+/. - c.1436C>T pathogenic r.(?) p.(Pro479Leu)
+/. 14 c.1637C>A - r.(?) p.(Ala546Asp)
+/. 14 c.1712del - r.1712del p.Val571Aspfs*16
+/. 14 c.1712del - r.(?) p.(Val571Aspfs*16)
+?/. - c.1766A>C - r.(?) p.(His589Pro)
-?/. - c.1821A>C likely benign r.(?) p.(=)
+/. - c.1893G>C pathogenic r.(?) p.(Gln631His)
-?/. - c.1893+6T>C likely benign r.(=) p.(=)
-/. - c.1938T>C benign r.(?) p.(=)
?/. - c.2034G>T VUS r.(?) p.(Gln678His)
+/. - c.2064+1G>C pathogenic r.spl? p.?
+?/. - c.2177C>T likely pathogenic r.(?) p.(Pro726Leu)
-/. - c.2211+16C>T benign r.(=) p.(=)
-/. - c.2211+16C>T benign r.(=) p.(=)
?/. - c.2324C>T VUS r.(?) p.(Thr775Met)
-/. - c.2363G>A benign r.(?) p.(Arg788Gln)
-/. - c.2363G>A benign r.(?) p.(Arg788Gln)
-?/. - c.2395-18G>A likely benign r.(=) p.(=)
-?/. - c.2479-5C>T likely benign r.spl? p.?
?/. - c.2507C>A VUS r.(?) p.(Ala836Glu)
+?/. - c.2540T>C - r.(?) p.(Ile847Thr)
?/. - c.2851T>C VUS r.(?) p.(Ser951Pro)
+?/. - c.2860G>A likely pathogenic r.(?) p.(Gly954Ser)
+/+ 23 c.2869C>T - r.2869c>u p.Arg957*
?/. - c.2908T>C VUS r.(?) p.(Phe970Leu)
-?/. - c.3037A>C likely benign r.(?) p.(=)
-?/. - c.3423C>T likely benign r.(?) p.(=)
?/. - c.3500T>C - r.(?) p.(Leu1167Ser)
-/. - c.3508-16T>C benign r.(=) p.(=)
-/. - c.3508-16T>C benign r.(=) p.(=)
-?/. - c.3564G>A likely benign r.(?) p.(=)
+/. - c.3580C>T pathogenic r.(?) p.(Arg1194*)
?/. - c.3609_3611del - r.(?) p.(Leu1205del)
?/. - c.3789T>A VUS r.(?) p.(His1263Gln)
?/. - c.3829G>T VUS r.(?) p.(Val1277Phe)
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