Transcript #00001071

Transcript name transcript variant 1
Gene name CUL4B (cullin 4B)
Chromosome X
Transcript - NCBI ID NM_003588.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003579.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.26G>A likely benign r.(?) p.(Gly9Glu)
-?/. - c.26G>A likely benign r.(?) p.(Gly9Glu)
-?/. - c.26G>A likely benign r.(?) p.(Gly9Glu)
-?/. - c.65G>A likely benign r.(?) p.(Gly22Asp)
+/. 2i c.68-5940_68-193del - r.0 p.0
+/. 2i c.68-5940_68-193del - r.0 p.0
+/. 3 c.149C>T - r.(?) p.(Pro50Leu)
-?/. - c.194_202del likely benign r.(?) p.(Ser65_Ser67del)
-?/. - c.373C>G likely benign r.(?) p.(Leu125Val)
+?/? 3 c.429_431dup - r.(?) p.(Ser146dup)
./. - c.479_480del - r.(?) p.(Ser161Tyrfs*24)
+/. 3 c.481_482del - r.(?) p.(Ser161Tyrfs*24)
?/? 4 c.638C>T - r.(?) p.(Thr213Ile)
+?/. - c.750C>A likely pathogenic r.(?) p.(Tyr250*)
./. - c.809del - r.(?) p.(Ala270Aspfs*17)
-?/. - c.817C>A likely benign r.(?) p.(His273Asn)
?/. - c.817C>G VUS r.(?) p.(His273Asp)
-?/. - c.830+11dup likely benign r.(=) p.(=)
-?/. - c.830+12A>T likely benign r.(=) p.(=)
-?/. - c.831-12C>T likely benign r.(=) p.(=)
-?/. - c.867T>C likely benign r.(?) p.(=)
-/. - c.901-10del benign r.(=) p.(=)
+/. - c.949C>T pathogenic r.(?) p.(Gln317*)
?/. - c.964C>T VUS r.(?) p.(Pro322Ser)
-?/. - c.1003C>T likely benign r.(?) p.(His335Tyr)
./. - c.1004_1008del - r.(?) p.(Ile336Lysfs*2)
?/? 8 c.1007_1011del - r.(?) p.(Ile336Lysfs*2)
+/. 8 c.1007_1011del - r.(?) p.(Ile336Lysfs*2)
-/. - c.1138-38C>T benign r.(=) p.(=)
-?/. - c.1139T>G likely benign r.(?) p.(Ile380Ser)
?/. - c.1148A>G VUS r.(?) p.(Asp383Gly)
?/? 9 c.1162C>T - r.(?) p.(Arg388*)
+/. - c.1162C>T pathogenic r.(?) p.(Arg388*)
+/. 9 c.1162C>T ACMG: 5 r.(?) p.(Arg388*)
+?/. - c.1293_1296del likely pathogenic r.(?) p.(Tyr431*)
-?/. - c.1311-19T>C likely benign r.(=) p.(=)
-/. - c.1311-9del benign r.(=) p.(=)
-/. - c.1378+15G>A benign r.(=) p.(=)
./. - c.1450C>T - r.(?) p.(Arg484*)
?/. - c.1451_1462del VUS r.(?) p.(Arg484_Val487del)
-/. - c.1497+76C>T benign r.(=) p.(=)
-/. - c.1497+102del benign r.(=) p.(=)
?/? 14 c.1714C>T - r.(?) p.(Arg572Cys)
+?/. - c.1728del likely pathogenic r.(?) p.(Glu577Lysfs*15)
-?/. - c.1776C>T likely benign r.(?) p.(=)
./. - c.1858_1860dup - r.(?) p.(Ser620dup)
+/. 15 c.1860_1862dup - r.(?) p.(Ala621dup)
./. - c.1906+1G>T - r.spl? p.?
+/. 15i c.1906+1G>T - r.1796_1906del p.Gly599_His635del
-?/. - c.1911C>T likely benign r.(?) p.(=)
-?/. - c.1911C>T likely benign r.(?) p.(=)
-?/. - c.1911C>T likely benign r.(?) p.(=)
-?/. - c.1993-5T>C likely benign r.spl? p.?
-?/. - c.2015C>T likely benign r.(?) p.(Pro672Leu)
+/? 17 c.2060G>A - r.(?) p.(Trp687*)
+/. - c.2061G>A pathogenic r.(?) p.(Trp687*)
-?/. - c.2095C>A likely benign r.(?) p.(Pro699Thr)
+/. - c.2193_2194del - r.(?) p.(Leu732Lysfs*5)
?/. 18i c.2214+99_2214+102del - r.(?) p.(=)
?/. 18i c.2214+100_2214+101del - r.(?) p.(=)
-?/. - c.2215-15T>G likely benign r.(=) p.(=)
?/? 19 c.2234T>C - r.(?) p.(Val745Ala)
?/. - c.2287A>G VUS r.(?) p.(Ser763Gly)
-/. - c.2320+113del benign r.(=) p.(=)
-/. - c.2320+123del benign r.(=) p.(=)
./. - c.2352_2354del - r.(?) p.(Leu785del)
+/. 20 c.2353_2355del - r.(?) p.(Leu785del)
./. - c.2361dup - r.(?) p.(Gly788Trpfs*4)
+/. 20 c.2361dup - r.(?) p.(Gly788Trpfs*4)
+?/? 20 c.2469C>G - r.(?) p.(Ile823Met)
?/? 20 c.2493G>A - r.(spl?) p.(=)
+/. 20i c.2493+3A>G - r.[2414_2493del, 2429_2493del] p.Asp806*; p.Asn811*
-?/. - c.2493+7C>T likely benign r.(=) p.(=)
-?/. - c.2494-5G>T likely benign r.spl? p.?
+/. - c.2566C>G pathogenic r.(?) p.(Arg856Gly)
?/? 21 c.2566C>T - r.(?) p.(Arg856*)
+/. 21 c.2590_2593del - r.(?) p.(Leu864Alafs*13)
+/. 21 c.2626C>T - r.(?) p.(Gln876*)
-?/. - c.2712A>G likely benign r.(?) p.(=)
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