All variants in the ABCB4 gene

Information The variants shown are described using the NM_018849.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.140G>A r.(?) p.(Arg47Gln) - pathogenic g.87092220C>T g.87462904C>T ABCB4(NM_018849.2):c.140G>A (p.R47Q) - ABCB4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.175C>T r.(?) p.(Leu59=) - benign g.87092185G>A g.87462869G>A ABCB4(NM_018849.2):c.175C>T (p.L59=) - ABCB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.175C>T r.(?) p.(Leu59=) - benign g.87092185G>A g.87462869G>A ABCB4(NM_018849.2):c.175C>T (p.L59=) - ABCB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.337A>G r.(?) p.(Met113Val) - likely pathogenic g.87083858T>C g.87454542T>C - - ABCB4_000029 - PubMed: Saeed 2018 - - Germline - - - 0 - Johan den Dunnen
+/+ 6 c.394_400del r.394_400del p.Tyr132Lysfs*29 - pathogenic g.87082397_87082403del g.87453081_87453087del codon 132 TATATACdel - ABCB4_000001 antibody liver absence of canalicular staining PubMed: de Vree 1998, OMIM:var0001 - rs387906526 Germline yes - - 0 - Johan den Dunnen
-/. - c.504C>T r.(?) p.(Asn168=) - benign g.87082292G>A g.87452976G>A ABCB4(NM_018849.2):c.504C>T (p.N168=) - ABCB4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.504C>T r.(?) p.(Asn168=) - benign g.87082292G>A g.87452976G>A ABCB4(NM_018849.2):c.504C>T (p.N168=) - ABCB4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.523A>G r.(?) p.(Thr175Ala) - likely benign g.87082273T>C g.87452957T>C ABCB4(NM_018849.2):c.523A>G (p.T175A) - ABCB4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.523A>G r.(?) p.(Thr175Ala) - likely benign g.87082273T>C g.87452957T>C - - ABCB4_000053 61 heterozygous; Clinindb (India) Faruq 2020, submtted - rs58238559 Germline - 61/2794 individuals - 0 - Mohammed Faruq
-?/. - c.523A>G r.(?) p.(Thr175Ala) - likely benign g.87082273T>C g.87452957T>C - - ABCB4_000053 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs58238559 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-/. - c.696C>T r.(?) p.(Ala232=) - benign g.87080951G>A g.87451635G>A ABCB4(NM_018849.2):c.696C>T (p.A232=) - ABCB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.711A>T r.(?) p.(Ile237=) - benign g.87079406T>A g.87450090T>A ABCB4(NM_018849.2):c.711A>T (p.I237=) - ABCB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.711A>T r.(?) p.(Ile237=) - benign g.87079406T>A g.87450090T>A ABCB4(NM_018849.2):c.711A>T (p.I237=) - ABCB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.832A>G r.(?) p.(Arg278Gly) - likely pathogenic g.87079285T>C g.87449969T>C - - ABCB4_000034 - - - - Germline ? No frequency - 0 - Minh Tuan Huynh
+/. - c.959C>T r.(?) p.(Ser320Phe) - pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.3):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.959C>T r.(?) p.(Ser320Phe) - likely pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.3):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.959C>T r.(?) p.(Ser320Phe) - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.959C>T r.(?) p.(Ser320Phe) - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1229A>G r.(?) p.(Lys410Arg) - VUS g.87072980T>C g.87443664T>C ABCB4(NM_018849.2):c.1229A>G (p.K410R) - ABCB4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.1280T>C r.(?) p.(Leu427Pro) - likely pathogenic g.87072711A>G g.87443395A>G - - ABCB4_000031 - - - - Germline yes - - 0 - Minh Tuan Huynh
+/. - c.1436C>T r.(?) p.(Pro479Leu) - pathogenic g.87069639G>A g.87440323G>A - - ABCB4_000036 - - - - Unknown - - - 0 - IMGAG
+?/. - c.1529A>G r.(?) p.(Arg957*) - likely pathogenic (recessive) g.87069546T>C - - - ABCB4_000056 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 14 c.1637C>A r.(?) p.(Ala546Asp) - pathogenic g.87069077G>T g.87439761G>T - - ABCB4_000004 expression cloning of variant introduced at equivalent position in ABCB1 (MDR1) shows disrupted protein trafficking with subsequent lack of functional protein at cell surface (FACS and Western blot) PubMed: Dixon 2000, Journal: Dixon 2000, OMIM:var0004 - rs121918441 Germline - 1/8 cases SexAI- 0 - Johan den Dunnen
+/. 14 c.1712del r.1712del p.Val571Aspfs*16 - pathogenic g.87069002del g.87439686del 1712delT - ABCB4_000003 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003 - rs387906527 Germline yes - TaqI- 0 - Johan den Dunnen
+/. 14 c.1712del r.(?) p.(Val571Aspfs*16) - pathogenic g.87069002del g.87439686del 1712delT - ABCB4_000003 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003 - - Germline yes - TaqI- 0 - Johan den Dunnen
+?/. - c.1766A>C r.(?) p.(His589Pro) - likely pathogenic g.87060847T>G g.87431531T>G - - ABCB4_000033 - - - - Germline ? - - 0 - Minh Tuan Huynh
?/. - c.1769G>A r.(?) p.(Arg590Gln) - VUS g.87060844C>T - ABCB4(NM_018849.2):c.1769G>A (p.R590Q) - ABCB4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1821A>C r.(?) p.(Val607=) - likely benign g.87060792T>G g.87431476T>G ABCB4(NM_018849.2):c.1821A>C (p.V607=) - ABCB4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1893G>C r.(?) p.(Gln631His) - pathogenic g.87060720C>G g.87431404C>G ABCB4(NM_018849.2):c.1893G>C (p.Q631H) - ABCB4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1893G>C r.(?) p.(Gln631His) - VUS g.87060720C>G - ABCB4(NM_018849.2):c.1893G>C (p.Q631H) - ABCB4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1893+6T>C r.(=) p.(=) - likely benign g.87060714A>G g.87431398A>G ABCB4(NM_018849.2):c.1893+6T>C - ABCB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1893+6T>C r.(=) p.(=) - likely benign g.87060714A>G g.87431398A>G ABCB4(NM_018849.2):c.1893+6T>C - ABCB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1938T>C r.(?) p.(Asp646=) - benign g.87056192A>G g.87426876A>G ABCB4(NM_018849.2):c.1938T>C (p.D646=) - ABCB4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1938T>C r.(?) p.(Asp646=) - likely benign g.87056192A>G g.87426876A>G ABCB4(NM_018849.2):c.1938T>C (p.D646=) - ABCB4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2034G>T r.(?) p.(Gln678His) - VUS g.87056096C>A g.87426780C>A ABCB4(NM_018849.2):c.2034G>T (p.Q678H) - ABCB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.2064+1G>C r.spl? p.? - pathogenic g.87056065C>G g.87426749C>G - - ABCB4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.2177C>T r.(?) p.(Pro726Leu) - likely pathogenic g.87053256G>A g.87423940G>A ABCB4(NM_018849.2):c.2177C>T (p.P726L) - ABCB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2211+16C>T r.(=) p.(=) - benign g.87053206G>A g.87423890G>A ABCB4(NM_018849.2):c.2211+16C>T - ABCB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2211+16C>T r.(=) p.(=) - benign g.87053206G>A g.87423890G>A ABCB4(NM_018849.2):c.2211+16C>T - ABCB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2324C>T r.(?) p.(Thr775Met) - VUS g.87049384G>A g.87420068G>A ABCB4(NM_018849.2):c.2324C>T (p.T775M) - ABCB4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2363G>A r.(?) p.(Arg788Gln) - benign g.87049345C>T g.87420029C>T ABCB4(NM_018849.2):c.2363G>A (p.R788Q) - ABCB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2363G>A r.(?) p.(Arg788Gln) - benign g.87049345C>T g.87420029C>T ABCB4(NM_018849.2):c.2363G>A (p.R788Q) - ABCB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2395-18G>A r.(=) p.(=) - likely benign g.87047954C>T g.87418638C>T ABCB4(NM_000443.3):c.2395-18G>A - ABCB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2479-5C>T r.spl? p.? - likely benign g.87046836G>A g.87417520G>A ABCB4(NM_018849.2):c.2479-5C>T - ABCB4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2507C>A r.(?) p.(Ala836Glu) - VUS g.87046803G>T g.87417487G>T ABCB4(NM_018849.2):c.2507C>A (p.A836E) - ABCB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.2540T>C r.(?) p.(Ile847Thr) - likely pathogenic g.87046770A>G g.87417454A>G - - ABCB4_000032 - - - rs769944852 Germline yes 0.00041% - 0 - Minh Tuan Huynh
+?/. - c.2800G>A r.(?) p.(Ala934Thr) - likely pathogenic g.87041333C>T g.87412017C>T ABCB4(NM_018849.2):c.2800G>A (p.A934T) - ABCB4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2800G>A r.(?) p.(Ala934Thr) - likely pathogenic g.87041333C>T g.87412017C>T ABCB4(NM_018849.2):c.2800G>A (p.A934T) - ABCB4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2801C>T r.(?) p.(Ala934Val) - VUS g.87041332G>A - ABCB4(NM_018849.2):c.2801C>T (p.A934V) - ABCB4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2851T>C r.(?) p.(Ser951Pro) - VUS g.87041282A>G g.87411966A>G ABCB4(NM_018849.2):c.2851T>C (p.S951P) - ABCB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.2860G>A r.(?) p.(Gly954Ser) - likely pathogenic g.87041273C>T g.87411957C>T ABCB4(NM_018849.2):c.2860G>A (p.G954S) - ABCB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/+ 23 c.2869C>T r.2869c>u p.Arg957* - pathogenic g.87041264G>A g.87411948G>A codon 957 C>T - ABCB4_000002 antibody liver absence of canalicular staining PubMed: de Vree 1998, OMIM:var0001 - rs121918440 Germline yes - - 0 - Johan den Dunnen
+?/. - c.2869C>T r.(?) p.(Arg957*) - likely pathogenic (recessive) g.87041264G>A - - - ABCB4_000002 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
?/. - c.2908T>C r.(?) p.(Phe970Leu) - VUS g.87041225A>G g.87411909A>G - - ABCB4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.3037A>C r.(?) p.(Arg1013=) - likely benign g.87038596T>G g.87409280T>G ABCB4(NM_018849.2):c.3037A>C (p.R1013=) - ABCB4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3423C>T r.(?) p.(Asp1141=) - likely benign g.87035688G>A g.87406372G>A ABCB4(NM_018849.2):c.3423C>T (p.D1141=) - ABCB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.3500T>C r.(?) p.(Leu1167Ser) - VUS g.87035611A>G g.87406295A>G - - ABCB4_000030 - - - - Unknown - - - 0 - Gunnar Schmidt
-?/. - c.3507+10dup r.(=) p.(=) - likely benign g.87035596dup - ABCB4(NM_018849.2):c.3507+10dupA - ABCB4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3508-16T>C r.(=) p.(=) - benign g.87032613A>G g.87403297A>G ABCB4(NM_018849.2):c.3508-16T>C - ABCB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3508-16T>C r.(=) p.(=) - benign g.87032613A>G g.87403297A>G ABCB4(NM_018849.2):c.3508-16T>C - ABCB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3564G>A r.(?) p.(Gln1188=) - likely benign g.87032541C>T g.87403225C>T ABCB4(NM_018849.2):c.3564G>A (p.Q1188=) - CROT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.3580C>T r.(?) p.(Arg1194Ter) - pathogenic g.87032525G>A g.87403209G>A ABCB4(NM_000443.3):c.3559C>T (p.R1187*) - ABCB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.3609_3611del r.(?) p.(Leu1205del) - VUS g.87032498_87032500del g.87403182_87403184del - - ABCB4_000035 - - - - Unknown - - - 0 - Gunnar Schmidt
?/. - c.3789T>A r.(?) p.(His1263Gln) - VUS g.87031484A>T g.87402168A>T ABCB4(NM_018849.2):c.3789T>A (p.H1263Q) - CROT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3829G>T r.(?) p.(Val1277Phe) - VUS g.87031444C>A g.87402128C>A ABCB4(NM_018849.2):c.3829G>T (p.V1277F) - ABCB4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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