Transcript #00010464

Transcript name lysine (K)-specific demethylase 6B
Gene name KDM6B (lysine (K)-specific demethylase 6B)
Chromosome 17
Transcript - NCBI ID NM_001080424.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001073893.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-268-8C>T likely benign r.(=) p.(=)
-?/. - c.165G>A likely benign r.(?) p.(=)
-?/. - c.399C>G likely benign r.(?) p.(=)
?/. - c.445C>T VUS r.(?) p.(Arg149*)
-?/. - c.457-8A>C likely benign r.(=) p.(=)
-?/. - c.457-2A>C likely benign r.spl? p.?
-?/. - c.457-2A>C likely benign r.spl? p.?
-?/. - c.457-2_457del likely benign r.spl? p.?
-?/. - c.501C>G likely benign r.(?) p.(=)
?/. - c.575G>C VUS r.(?) p.(Arg192Pro)
-?/. - c.607C>G likely benign r.(?) p.(Pro203Ala)
-?/. - c.625G>T likely benign r.(?) p.(Val209Leu)
-?/. - c.625G>T likely benign r.(?) p.(Val209Leu)
-?/. - c.753_754insACC likely benign r.(?) p.(Leu251_Pro252insThr)
?/. - c.753_754insACCACC VUS r.(?) p.(Leu251_Pro252insThrThr)
-?/. - c.753_754insACCACCACC likely benign r.(?) p.(Leu251_Pro252insThrThrThr)
-/. - c.783_791del benign r.(?) p.(Pro262_Pro264del)
-/. - c.783_791del benign r.(?) p.(Pro262_Pro264del)
-/. - c.783_791dup benign r.(?) p.(Pro262_Pro264dup)
-/. - c.783_791dup benign r.(?) p.(Pro262_Pro264dup)
-?/. - c.786_791del likely benign r.(?) p.(Pro263_Pro264del)
-?/. - c.786_791del likely benign r.(?) p.(Pro263_Pro264del)
-/. - c.786_791del benign r.(?) p.(Pro263_Pro264del)
-/. - c.786_791dup benign r.(?) p.(Pro263_Pro264dup)
-/. - c.786_791dup benign r.(?) p.(Pro263_Pro264dup)
-?/. - c.788_789insCACCCC likely benign r.(?) p.(Pro263_Pro264insThrPro)
-/. - c.789_791del benign r.(?) p.(Pro264del)
-?/. - c.789_791del likely benign r.(?) p.(Pro264del)
-?/. - c.789_791dup likely benign r.(?) p.(Pro264dup)
-/. - c.789_791dup benign r.(?) p.(Pro264dup)
-/. - c.807T>C benign r.(?) p.(=)
-?/. - c.910-7C>T likely benign r.(=) p.(=)
-?/. - c.923C>T likely benign r.(?) p.(Ser308Leu)
-?/. - c.1019G>C likely benign r.(?) p.(Arg340Pro)
?/. - c.1085_1088del VUS r.(?) p.(Glu362Alafs*124)
-?/. - c.1235G>T likely benign r.(?) p.(Gly412Val)
-/. - c.1258-17T>C benign r.(=) p.(=)
-?/. - c.1330A>G likely benign r.(?) p.(Ser444Gly)
-?/. - c.1532C>A likely benign r.(?) p.(Pro511His)
-/. - c.1538G>C benign r.(?) p.(Arg513Pro)
-?/. - c.1538G>C likely benign r.(?) p.(Arg513Pro)
-?/. - c.1543G>C likely benign r.(?) p.(Ala515Pro)
-?/. - c.1556T>C likely benign r.(?) p.(Leu519Pro)
-?/. - c.1825G>A likely benign r.(?) p.(Ala609Thr)
-?/. - c.1924C>T likely benign r.(?) p.(Pro642Ser)
-?/. - c.1925C>T likely benign r.(?) p.(Pro642Leu)
-/. - c.2172G>A benign r.(?) p.(=)
-?/. - c.2174T>C likely benign r.(?) p.(Leu725Pro)
-?/. - c.2277_2285del likely benign r.(?) p.(Thr760_Thr762del)
-?/. - c.2280_2285del likely benign r.(?) p.(Thr761_Thr762del)
-?/. - c.2283_2285del likely benign r.(?) p.(Thr762del)
-/. - c.2283_2285del benign r.(?) p.(Thr762del)
-?/. - c.2600C>T likely benign r.(?) p.(Ser867Leu)
-?/. - c.2652G>A likely benign r.(?) p.(=)
-?/. - c.2656G>A likely benign r.(?) p.(Glu886Lys)
-?/. - c.2677A>C likely benign r.(?) p.(Met893Leu)
-?/. - c.2680A>T likely benign r.(?) p.(Thr894Ser)
-?/. - c.2685dup likely benign r.(?) p.(Thr896Hisfs*15)
-?/. - c.2686A>C likely benign r.(?) p.(Thr896Pro)
-?/. - c.2686del likely benign r.(?) p.(Thr896Profs*19)
-?/. - c.2690A>C likely benign r.(?) p.(Gln897Pro)
-?/. - c.2690_2691del likely benign r.(?) p.(Gln897Profs*13)
-?/. - c.2700del likely benign r.(?) p.(Leu902Tyrfs*13)
-?/. - c.2701C>T likely benign r.(?) p.(Pro901Ser)
-?/. - c.2705T>C likely benign r.(?) p.(Leu902Pro)
-?/. - c.2705_2712del likely benign r.(?) p.(Leu902Profs*6)
?/. - c.2718del VUS r.(?) p.(Ala907Leufs*8)
?/. - c.2726C>A VUS r.(?) p.(Ser909Tyr)
-?/. - c.2938_2940del likely benign r.(?) p.(Gln980del)
?/. - c.3444T>G VUS r.(?) p.(Asn1148Lys)
-/. - c.4044G>A benign r.(?) p.(=)
?/. - c.4168C>T VUS r.(?) p.(His1390Tyr)
-?/. - c.4188C>T likely benign r.(?) p.(=)
?/. - c.4590del VUS r.(?) p.(Asp1531Thrfs*5)
-?/. - c.*1572G>C likely benign r.(=) p.(=)
?/. - c.*5993C>T VUS r.(=) p.(=)
-?/. - c.*6032G>A likely benign r.(=) p.(=)
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