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

380 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-1107C>G likely benign r.(?) p.(=)
+?/. - c.-408T>C likely pathogenic r.(?) p.(=)
-/. - c.-75C>A benign r.(?) p.(=)
-/. - c.-75C>A benign r.(?) p.(=)
-/. - c.-75C>A benign r.(?) p.(=)
+/. - c.19_20del pathogenic r.(?) p.(Gln7Aspfs*14)
-?/. - 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.437A>G likely benign r.(?) p.(Lys146Arg)
-?/. - 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.550G>A likely benign r.(?) p.(Val184Ile)
-?/. - c.677G>A likely benign r.(?) p.(Arg226Gln)
+/. - c.813C>A pathogenic r.(?) p.(Cys271*)
+/. - c.813C>A pathogenic r.(?) p.(Cys271*)
+/. - c.813C>A pathogenic r.(?) p.(Cys271*)
-?/. - c.1049C>T likely benign r.(?) p.(Pro350Leu)
?/. - c.1099G>A VUS r.(?) p.(Gly367Ser)
?/. - c.1121T>G VUS r.(?) p.(Val374Gly)
-/. - c.1122C>G benign r.(?) p.(=)
?/. - c.1122C>G VUS r.(?) p.(=)
?/. - c.1145C>G VUS r.(?) p.(Ser382Cys)
?/. - c.1145C>G VUS r.(?) p.(Ser382Cys)
-?/. - c.1153G>A likely benign r.(?) p.(Glu385Lys)
-/. - 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.1216T>G benign r.(?) p.(Ser406Ala)
-?/. - c.1230A>G likely benign r.(?) p.(=)
-?/. - c.1230A>G likely benign r.(?) p.(=)
+?/. - c.1252G>T - r.(?) p.(Glu418*)
-/. - c.1278C>T benign r.(?) p.(=)
-?/. - c.1278C>T likely benign r.(?) p.(=)
-?/. - c.1278C>T likely benign r.(?) p.(=)
?/. - c.1285+5G>T VUS r.spl? p.?
+?/. - c.1285+5G>T likely pathogenic r.spl? p.?
+?/. - c.1285+5G>T likely pathogenic r.spl? p.?
-?/. - c.1291T>C likely benign r.(?) p.(Cys431Arg)
-/. - 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.1366G>C benign r.(?) p.(Val456Leu)
-?/. - c.1543+13C>T likely benign r.(=) p.(=)
-?/. - c.1544-12T>C likely benign r.(=) p.(=)
?/. - c.1555G>A VUS r.(?) p.(Val519Met)
?/. - c.1555G>A VUS r.(?) p.(Val519Met)
-?/. - c.1555G>A likely benign r.(?) p.(Val519Met)
?/. - c.1607T>C VUS r.(?) p.(Val536Ala)
-?/. - c.1607T>C likely benign r.(?) p.(Val536Ala)
-?/. - 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.1708-1G>C pathogenic r.spl? p.?
?/. - c.1727C>T VUS r.(?) p.(Ala576Val)
?/. - c.1727C>T VUS r.(?) p.(Ala576Val)
-?/. - c.1728G>A likely benign r.(?) p.(=)
-/. - c.1728G>A benign r.(?) p.(=)
+?/. - c.1774A>T - r.(?) p.(Ile592Phe)
+?/. - c.1847G>A likely pathogenic r.(?) p.(Arg616Gln)
?/. - c.1870-2A>G VUS r.spl? p.?
-?/. - c.1883A>G likely benign r.(?) p.(His628Arg)
+?/. - c.1910del - r.(?) p.(Asn637Thrfs*11)
-?/. 6 c.1911C>T - r.(?) p.(Asn637=)
+/. - c.1922T>C pathogenic r.(?) p.(Leu641Ser)
?/. - c.1922T>C VUS r.(?) p.(Leu641Ser)
-?/. - c.1965G>A likely benign r.(?) p.(=)
-?/. - c.1993A>G likely benign r.(?) p.(Met665Val)
?/. - c.1993A>G VUS r.(?) p.(Met665Val)
?/. - c.1995G>A VUS r.(?) p.(Met665Ile)
-?/. - c.1995G>A likely benign r.(?) p.(Met665Ile)
?/. - c.1995G>A VUS r.(?) p.(Met665Ile)
+?/. - 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.2123T>C likely pathogenic r.(?) p.(Leu708Pro)
?/. - c.2145C>T VUS r.(?) p.(=)
-/. - c.2175G>A benign r.(?) p.(=)
-/. - c.2175G>A benign r.(?) p.(=)
Legend   « First ‹ Prev     1 2 3 4     Next › Last »