All transcript variants in gene ABCB6

Information The variants shown are described using the NM_005689.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.117G>A benign r.(=) p.(=) g.220083279C>T - ABCB6:c.117G>A (=) - ABCB6_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.490G>A likely benign r.(?) p.(Ala164Thr) g.220082906C>T - ATG9A:NM_001077198.1:c.*2263G>A, NM_005689.2:c.490G>A, … - ABCB6_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.574C>T VUS r.(?) p.(Arg192Trp) g.220082505G>A - ABCB6:c.574C>T (R192W) - ABCB6_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.574C>T VUS r.(?) p.(Arg192Trp) g.220082505G>A - ABCB6:c.574C>T (R192W) - ABCB6_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.575G>A likely benign r.(?) p.(Arg192Gln) g.220082504C>T - ABCB6:c.575G>A (R192Q) - ABCB6_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.649C>A benign r.(?) p.(Gln217Lys) g.220082430G>T - ABCB6:c.649C>A (Q217K) - ABCB6_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.688-9C>T benign r.(=) p.(=) g.220081563G>A - ABCB6:c.688-9C>T - ABCB6_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.739C>T likely benign r.(?) p.(Arg247Cys) g.220081503G>A - ATG9A:NM_001077198.1:c.*3666C>T, NM_005689.2:c.739C>T, … - ABCB6_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1217G>C benign r.(?) p.(Ser406Thr) g.220079742C>G - ABCB6:c.1217G>C (S406T) - ABCB6_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1361T>C likely benign r.(?) p.(Val454Ala) g.220079136A>G - ATG9A:NM_001077198.1:c.*6033T>C, NM_001270998.1:c.*5108A>G, … - ABCB6_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1474G>A likely benign r.(?) p.(Ala492Thr) g.220078652C>T - ABCB6:NM_001270998.1:c.*4624C>T, NM_001270999.1:c.*4624C>T, … - ABCB6_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1562C>G benign r.(?) p.(Thr521Ser) g.220078564G>C - ABCB6:c.1562C>G (T521S) - ABCB6_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1562C>G likely benign r.(?) p.(Thr521Ser) g.220078564G>C - ABCB6:c.1562C>G (T521S) - ABCB6_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1719+18A>C benign r.(=) p.(=) g.220078143T>G - ABCB6:c.1719+18A>C - ABCB6_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1762G>A likely benign r.(?) p.(Gly588Ser) g.220078006C>T - ABCB6:c.1762G>A (G588S) - ABCB6_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1762G>A likely benign r.(?) p.(Gly588Ser) g.220078006C>T - ABCB6:c.1762G>A (G588S) - ABCB6_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1762G>A likely benign r.(?) p.(Gly588Ser) g.220078006C>T - ABCB6:NM_001270998.1:c.*3978C>T, NM_001270999.1:c.*3978C>T, … - ABCB6_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1943G>A likely benign r.(?) p.(Arg648Gln) g.220077134C>T - ABCB6:c.1943G>A (R648Q) - ABCB6_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1954C>A likely benign r.(?) p.(Gln652Lys) g.220077123G>T - ABCB6:NM_001270998.1:c.*3095G>T, NM_001270999.1:c.*3095G>T, … - ABCB6_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2041G>A VUS r.(?) p.(Ala681Thr) g.220075758C>T - ABCB6:c.2041G>A (A681T) - ABCB6_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.2144-4A>G benign r.spl? p.? g.220075549T>C - ABCB6:c.2144-4A>G - ABCB6_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.2168G>A VUS r.(?) p.(Arg723Gln) g.220075521C>T - ABCB6:c.2168G>A (R723Q) - ABCB6_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2215C>T likely benign r.(?) p.(Arg739Cys) g.220075474G>A - ABCB6:c.2215C>T (R739C) - ABCB6_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.2351+12C>T benign r.(=) p.(=) g.220075091G>A - ABCB6:c.2351+12C>T - ABCB6_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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