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

104 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-208G>A likely benign r.(?) p.(=)
?/. - c.82C>T VUS r.(?) p.(Leu28Phe)
+/. - c.82dup pathogenic r.(?) p.(Leu28Profs*10)
?/. - c.96+233T>C - - p.(=)
-?/. - c.113C>A likely benign r.(?) p.(Ser38Tyr)
?/. - c.131C>T VUS r.(?) p.(Pro44Leu)
?/. - c.304A>G VUS r.(?) p.(Ile102Val)
?/. - 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 VUS r.(?) p.(=)
?/. - c.1055T>C VUS r.(?) p.(Met352Thr)
?/. - c.1081G>C VUS r.(?) p.(Val361Leu)
?/. - c.1115A>G VUS r.(?) p.(His372Arg)
?/. - c.1161+193A>G - - p.(=)
-?/. - c.1309G>A likely benign r.(?) p.(Ala437Thr)
?/. - c.1549A>C VUS r.(?) p.(Ser517Arg)
?/. - 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.1704C>T likely benign r.(?) p.(=)
?/. - c.1764-170del - - p.(=)
?/. - c.1764-99G>T - - p.(=)
?/. - c.1764-99G>T - - p.(=)
?/. - c.1826A>G VUS r.(?) p.(Asn609Ser)
+/. - c.1840_1843del pathogenic r.(?) p.(Thr614Trpfs*2)
-?/. - c.1879A>T likely benign r.(?) p.(Met627Leu)
?/. 14i c.1897+280A>C - r.(?) p.(=)
?/. 14i c.1897+280A>C - r.(?) p.(=)
?/. - c.1897+340T>G - - p.(=)
-?/. - c.1920A>C likely benign r.(?) p.(Gln640His)
?/. - c.1920A>C VUS r.(?) p.(Gln640His)
-?/. - c.2004T>A likely benign r.(?) p.(=)
?/? 16 c.2004T>A - r.(?) p.(=)
-?/. - c.3028-7A>G likely benign r.(=) p.(=)
-?/. - c.3184T>G likely benign r.(?) p.(Leu1062Val)
?/. - c.3268T>C VUS r.(?) p.(Tyr1090His)
-?/. - c.3422T>C likely benign r.(?) p.(Met1141Thr)
?/. - c.3422T>C VUS r.(?) p.(Met1141Thr)
-?/. - 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 VUS r.(?) p.(Ser1218Valfs*10)
-?/. - c.3658C>T likely benign 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.3803A>G VUS r.(?) p.(Tyr1268Cys)
?/. - c.3815A>G VUS r.(?) p.(Asn1272Ser)
?/. - c.3878C>T VUS r.(?) p.(Thr1293Ile)
?/. - c.3930_3931insTTTTCT VUS r.(?) p.(Lys1310_Ala1311insPheSer)
?/. - c.3977+178T>C - - p.(=)
?/. - c.4156G>A VUS r.(?) p.(Ala1386Thr)
?/. - c.4234-214A>G - - p.(=)
?/. - c.4234-8T>C VUS r.(=) p.(=)
-?/. - c.4234-5G>T likely benign r.spl? p.?
-?/. - c.4492A>G likely benign r.(?) p.(Ile1498Val)
?/. - c.4707T>A VUS r.(?) p.(Asn1569Lys)
?/. - c.4762A>G VUS r.(?) p.(Ile1588Val)
?/? 31 c.4812G>A - r.(?) p.(=)
-?/. - c.4824+8T>A likely benign r.(=) p.(=)
?/. - c.4829A>G VUS r.(?) p.(Asn1610Ser)
+/. - 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.5814A>T likely benign r.(?) p.(=)
-?/. - c.5920A>G likely benign r.(?) p.(Ile1974Val)
-?/. - c.6084C>T likely benign r.(?) p.(=)
?/. - c.6085G>A VUS r.(?) p.(Gly2029Arg)
-?/. - c.6209+6T>G likely benign r.(=) p.(=)
-?/. - c.6210-7A>T likely benign r.(=) p.(=)
+?/. 37 c.6278T>A - r.(?) p.(Leu2093His)
+?/. 38 c.6469C>A - r.(?) p.(Leu2157Ile)
?/. - c.6898G>A VUS r.(?) p.(Val2300Ile)
?/. - c.7440dup VUS r.(?) p.(Ala2481Serfs*17)
?/. - c.7480-165del - - p.(=)
?/. - c.7480-165del - - p.(=)
+?/? ? c.7505delA - r.(?) p.fs
?/. - c.7556C>T VUS r.(?) p.(Pro2519Leu)
+/. 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.(=)
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