Transcript #00001861

Transcript name ATP-binding cassette, sub-family B (MDR/TAP), member 6
Gene name ABCB6 (ATP-binding cassette, sub-family B (MDR/TAP), member 6)
Chromosome 2
Transcript - NCBI ID NM_005689.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005680.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.117G>A benign r.(=) p.(=)
-?/. - c.490G>A likely benign r.(?) p.(Ala164Thr)
?/. - c.574C>T VUS r.(?) p.(Arg192Trp)
?/. - c.574C>T VUS r.(?) p.(Arg192Trp)
-?/. - c.575G>A likely benign r.(?) p.(Arg192Gln)
-/. - c.649C>A benign r.(?) p.(Gln217Lys)
-/. - c.688-9C>T benign r.(=) p.(=)
-?/. - c.739C>T likely benign r.(?) p.(Arg247Cys)
-/. - c.1217G>C benign r.(?) p.(Ser406Thr)
-?/. - c.1361T>C likely benign r.(?) p.(Val454Ala)
-?/. - c.1474G>A likely benign r.(?) p.(Ala492Thr)
-?/. - c.1562C>G likely benign r.(?) p.(Thr521Ser)
-/. - c.1562C>G benign r.(?) p.(Thr521Ser)
-/. - c.1719+18A>C benign r.(=) p.(=)
-?/. - c.1762G>A likely benign r.(?) p.(Gly588Ser)
-?/. - c.1762G>A likely benign r.(?) p.(Gly588Ser)
-?/. - c.1762G>A likely benign r.(?) p.(Gly588Ser)
-?/. - c.1943G>A likely benign r.(?) p.(Arg648Gln)
-?/. - c.1954C>A likely benign r.(?) p.(Gln652Lys)
?/. - c.2041G>A VUS r.(?) p.(Ala681Thr)
-/. - c.2144-4A>G benign r.spl? p.?
?/. - c.2168G>A VUS r.(?) p.(Arg723Gln)
-?/. - c.2215C>T likely benign r.(?) p.(Arg739Cys)
-/. - c.2351+12C>T benign r.(=) p.(=)
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