Transcript #00000308

Transcript name transcript variant 3
Gene name USP9X (ubiquitin specific peptidase 9, X-linked)
Chromosome X
Transcript - NCBI ID NM_001039590.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001034679.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

87 entries on 1 page. Showing entries 1 - 87.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-208G>A likely benign r.(=) p.(=)
+/. - c.74_75insC pathogenic r.(?) p.(Gln25Hisfs*13)
?/. - c.82C>T VUS r.(?) p.(Leu28Phe)
?/. - c.96+233T>C - - p.(=)
?/. - c.436-237T>A - - p.(=)
?/. - c.436-237T>A - - p.(=)
?/. - c.654+38A>G - - p.(=)
?/. - c.654+38A>G - - p.(=)
?/. - c.727A>G VUS r.(?) p.(Asn243Asp)
-?/. - c.1023A>G likely benign - -
?/. - c.1023A>G VUS - -
+?/. - c.1081G>C likely pathogenic - -
-?/. - c.1081G>C likely benign - -
?/. - c.1115A>G VUS - -
?/. - c.1161+193A>G - - p.(=)
-?/. - c.1309G>A likely benign r.(?) p.(Ala437Thr)
?/. - c.1626+112C>T - - p.(=)
?/. - c.1626+112C>T - - p.(=)
?/. - c.1627-136T>C - - p.(=)
?/. - c.1627-136T>C - - p.(=)
+/. - c.1652G>A pathogenic r.(?) p.(Trp551*)
?/. - c.1764-170del - - p.(=)
?/. - c.1764-99G>T - - p.(=)
?/. - c.1764-99G>T - - p.(=)
?/. - c.1826A>G VUS r.(?) p.(Asn609Ser)
+/. - c.1838_1841del pathogenic r.(?) p.(Thr614Trpfs*2)
?/. 14i c.1897+280A>C - r.(?) p.(=)
?/. 14i c.1897+280A>C - r.(?) p.(=)
?/. - c.1897+340T>G - - p.(=)
-?/. - c.1920A>C likely benign - -
?/? 16 c.2004T>A - r.(?) p.(=)
-/. - c.3028-7A>G benign - -
?/. - c.3268T>C VUS r.(?) p.(Tyr1090His)
-?/. - c.3422T>C likely benign r.(?) p.(Met1141Thr)
-?/. - c.3422T>C likely benign - -
-?/. - c.3422T>C likely benign r.(?) p.(Met1141Thr)
-/. - c.3558+16T>C benign r.(=) p.(=)
?/. - c.3558+16T>C - - p.(=)
?/. - c.3558+16T>C - - p.(=)
?/? 24 c.3630C>T - r.(?) p.(=)
+?/. - c.3650dup likely pathogenic - -
?/. - c.3658C>T VUS r.(?) p.(Arg1220Cys)
?/. - c.3684+188_3684+189insT - - p.(=)
?/. - c.3684+188_3684+189insT - - p.(=)
?/. - c.3684+188_3684+189insTT - - p.(=)
?/. - c.3684+202dup - - p.(=)
?/. - c.3684+202dup - - p.(=)
?/. - c.3684+202_3684+203insTT - - p.(=)
?/. - c.3684+202_3684+203insTTT - - p.(=)
+/. - c.3709del pathogenic r.(?) p.(Cys1237Valfs*2)
?/. - c.3803A>G VUS r.(?) p.(Tyr1268Cys)
?/. - c.3815A>G VUS r.(?) p.(Asn1272Ser)
?/. - c.3977+178T>C - - p.(=)
-?/. - c.4156G>A likely benign - -
?/. - c.4234-214A>G - - p.(=)
?/. - c.4234-8T>C VUS - -
-?/. - c.4234-8T>C likely benign - -
?/. - c.4707T>A VUS - -
-?/. - c.4762A>G likely benign - -
?/? 31 c.4812G>A - r.(?) p.(=)
-?/. - c.4824+8T>A likely benign r.(=) p.(=)
?/. - c.4829A>G VUS - -
+/. - c.4983C>G pathogenic r.(?) p.(Tyr1661*)
?/. - c.5016-93G>A - - p.(=)
?/. - c.5016-93G>A - - p.(=)
?/. - c.5189+77_5189+78insA - - p.(=)
?/. - c.5189+77_5189+78insA - - p.(=)
-?/. 33i c.5189+78dup - r.(?) p.(=)
-?/. 33i c.5189+78dup - r.(?) p.(=)
-?/. - c.5374G>A likely benign r.(?) p.(Val1792Ile)
-?/. - c.5403C>T likely benign r.(=) p.(=)
?/? 35 c.5736T>C - r.(?) p.(=)
-?/. - c.6084C>T likely benign - -
?/. - c.6085G>A VUS - -
+?/. 37 c.6278T>A - r.(?) p.(Leu2093His)
+?/. 38 c.6469C>A - r.(?) p.(Leu2157Ile)
?/. - c.7440dup VUS - -
?/. - c.7480-165del - - p.(=)
?/. - c.7480-165del - - p.(=)
+?/? ? c.7505delA - r.(?) p.fs
-?/. - c.7556C>T likely benign - -
+/. 44 c.7574delA - r.(?) p.(Gln2525Argfs*18)
?/. - c.7576-168_7576-167insTTTTTG - - p.(=)
?/. 44i c.7576-140_7576-139insTGTTTT - r.(?) p.(=)
?/. 44i c.7576-140_7576-139insTGTTTT - r.(?) p.(=)
?/. - c.7633C>T VUS r.(?) p.(Pro2545Ser)
?/. - c.*1521del - - p.(=)
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