Transcript #00024144

Transcript name transcript variant 1
Gene name ATP7B (ATPase, Cu++ transporting, beta polypeptide)
Chromosome 13
Transcript - NCBI ID NM_000053.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000044.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

284 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. - c.-408T>C likely pathogenic r.(=) p.(=)
-/. - c.-75C>A benign r.(=) p.(=)
-/. - c.-75C>A benign r.(=) p.(=)
-?/. - c.19_20del ACMG: 2 r.(?) p.(Pro2_Met33del)
-?/. - c.19_20del ACMG: 2 r.(?) p.(Pro2_Met33del)
-?/. - c.29C>T likely benign r.(?) p.(Ala10Val)
+/. - c.51+4A>T pathogenic r.spl? p.?
-?/. - c.98T>C likely benign r.(?) p.(Met33Thr)
-?/. - c.278T>G likely benign r.(?) p.(Leu93Arg)
-?/. - c.325C>T likely benign r.(=) p.(=)
-?/. - c.325C>T likely benign r.(=) p.(=)
?/. - c.406A>G VUS r.(?) p.(Arg136Gly)
-?/. - c.445G>A likely benign r.(?) p.(Val149Met)
?/. - c.459C>T VUS r.(=) p.(=)
?/. - c.482T>C VUS r.(?) p.(Ile161Thr)
?/. - c.511G>T VUS r.(?) p.(Val171Leu)
+/. - c.813C>A pathogenic r.(?) p.(Cys271*)
-?/. - c.1099G>A likely benign r.(?) p.(Gly367Ser)
?/. - c.1121T>G VUS r.(?) p.(Val374Gly)
?/. - c.1145C>G VUS r.(?) p.(Ser382Cys)
?/. - c.1145C>G VUS r.(?) p.(Ser382Cys)
-/. - c.1216T>G benign r.(?) p.(Ser406Ala)
-/. - c.1216T>G benign r.(?) p.(Ser406Ala)
-/. - c.1216T>G benign r.(?) p.(Ser406Ala)
-/. - c.1216T>G benign r.(?) p.(Ser406Ala)
-/. - c.1216T>G benign r.(?) p.(Ser406Ala)
+?/. - c.1252G>T - r.(?) p.(Glu418*)
-?/. - c.1278C>T likely benign r.(=) p.(=)
-?/. - c.1278C>T likely benign r.(=) p.(=)
+?/. - c.1285+5G>T likely pathogenic r.spl? p.?
-/. - c.1366G>C benign r.(?) p.(Val456Leu)
-/. - c.1366G>C benign r.(?) p.(Val456Leu)
-/. - c.1366G>C benign r.(?) p.(Val456Leu)
-/. - c.1366G>C benign r.(?) p.(Val456Leu)
-?/. - c.1543+13C>T likely benign r.(=) p.(=)
-?/. - c.1620C>T likely benign r.(=) p.(=)
-?/. - c.1620C>T likely benign r.(=) p.(=)
-?/. - c.1620C>T likely benign r.(=) p.(=)
-?/. 4 c.1620C>T - r.(=) p.(Leu540=)
+?/. - c.1646T>C likely pathogenic r.(?) p.(Leu549Pro)
?/. - c.1699G>T VUS r.(?) p.(Glu567*)
+/. - c.1707+1G>A pathogenic r.spl? p.?
-?/. - c.1707+9T>C likely benign r.(=) p.(=)
-/. - c.1707+9T>C benign r.(=) p.(=)
?/. - c.1707+17C>A VUS r.(=) p.(=)
?/. - c.1707+17C>T VUS r.(=) p.(=)
-?/. - c.1707+102C>T likely benign r.(=) p.(=)
?/. - c.1727C>T VUS r.(?) p.(Ala576Val)
-/. - c.1728G>A benign r.(=) p.(=)
+?/. - c.1774A>T - r.(?) p.(Ile592Phe)
?/. - c.1870-2A>G VUS r.spl? p.?
+?/. - c.1910del - r.(?) p.(Asn637Thrfs*11)
-?/. 6 c.1911C>T - r.(?) p.(Asn637=)
+?/. - c.2004G>C - r.(?) p.(Met668Ile)
+?/. - c.2075T>C - r.(?) p.(Leu692Pro)
+?/. - c.2097_2099del - r.(?) p.(Phe700del)
+/. - c.2121+1G>T pathogenic r.spl? p.?
?/. - c.2145C>T VUS r.(=) p.(=)
-/. - c.2175G>A benign r.(=) p.(=)
-/. - c.2175G>A benign r.(=) p.(=)
-?/. - c.2175G>A likely benign r.(=) p.(=)
-?/. - c.2175G>A likely benign r.(=) p.(=)
?/. - c.2188G>A VUS r.(?) p.(Asp730Asn)
?/. - c.2191G>A VUS r.(?) p.(Val731Met)
+?/. - c.2255T>G likely pathogenic r.(?) p.(Val752Gly)
?/. - c.2292C>T VUS r.(=) p.(=)
+/. - c.2297C>T pathogenic r.(?) p.(Thr766Met)
+/. - c.2299dup pathogenic r.(?) p.(Met769Hisfs*26)
+?/. - c.2304dup - r.(?) p.(Met769Hisfs*26)
?/. - c.2305A>G VUS r.(?) p.(Met769Val)
+/. - c.2305_2306insC pathogenic r.(?) p.(Met769Thrfs*26)
?/. - c.2310C>G VUS r.(=) p.(=)
+?/. - c.2332C>T likely pathogenic r.(?) p.(Arg778Trp)
?/. - c.2333G>T VUS r.(?) p.(Arg778Leu)
+/. - c.2336G>A pathogenic r.(?) p.(Trp779*)
-?/. - c.2355+13T>G likely benign r.(=) p.(=)
-/. - c.2355+13T>G benign r.(=) p.(=)
-?/. - c.2355+13T>G likely benign r.(=) p.(=)
-/. - c.2355+13T>G benign r.(=) p.(=)
+/. - c.2356-1G>C pathogenic r.spl? p.?
+/. - c.2363C>T pathogenic r.(?) p.(Thr788Ile)
?/. - c.2413G>A VUS r.(?) p.(Val805Ile)
-?/. - c.2484C>T likely benign r.(=) p.(=)
-/. - c.2495A>G benign r.(?) p.(Lys832Arg)
-/. - c.2495A>G benign r.(?) p.(Lys832Arg)
-/. - c.2495A>G benign r.(?) p.(Lys832Arg)
+?/. - c.2507G>A likely pathogenic r.(?) p.(Gly836Glu)
?/. - c.2514G>T VUS r.(?) p.(Lys838Asn)
?/. - c.2544C>T VUS r.(=) p.(=)
?/. - c.2544C>T VUS r.(=) p.(=)
?/. - c.2572A>G VUS r.(?) p.(Thr858Ala)
?/. - c.2575+5G>C VUS r.spl? p.?
-?/. - c.2583C>T likely benign r.(=) p.(=)
+/. - c.2605G>A pathogenic r.(?) p.(Gly869Arg)
+/. - c.2605G>T pathogenic r.(?) p.(Gly869*)
-?/. - c.2606G>A likely benign r.(?) p.(Gly869Glu)
+/. - c.2621C>T pathogenic r.(?) p.(Ala874Val)
+?/. - c.2730G>T - r.(?) p.(Lys910Asn)
+/. - c.2755C>T pathogenic r.(?) p.(Arg919Trp)
+?/. - c.2790_2792del - r.(?) p.(Ile930del)
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