Transcript #00014181

Transcript name myosin VI
Gene name MYO6 (myosin VI)
Chromosome 6
Transcript - NCBI ID NM_004999.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004990.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
./. - c.-2750123_*190520del - r.0? p.0? -
+?/? 2 c.26C>T UV3 (ACMG: 3) r.(=) p.(Ala9Val) -
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) -
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) -
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) -
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) -
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) -
+/+ 2 c.36dup pathogenic r.(?) p.(Thr13Tyrfs*20) -
+?/. - c.37del likely pathogenic r.(?) p.(Thr13Glnfs*17) -
?/. 3 c.163A>G - r.(?) p.(Ser55Gly) -
?/. - c.178G>C VUS r.(?) p.(Glu60Gln) -
+/. - c.188-1G>A pathogenic r.spl? p.? -
-?/. - c.212C>T likely benign r.(?) p.(Ala71Val) -
?/. - c.212C>T VUS r.(?) p.(Ala71Val) -
+?/. - c.238C>T - r.(?) p.(Arg80*) -
?/. 5 c.271G>A - r.(?) p.(Ala91Thr) -
?/. - c.373C>T VUS r.(?) p.(Pro125Ser) -
-?/. - c.406C>A likely benign r.(?) p.(=) -
+?/. - c.406C>T likely pathogenic r.(?) p.(Arg136*) -
?/. - c.431G>A VUS r.(?) p.(Ser144Asn) -
+/. - c.456del pathogenic r.(?) p.(Glu152Aspfs*14) -
+/. - c.457T>C pathogenic r.(?) p.(Ser153Pro) -
?/. - c.457T>C VUS r.(?) p.(Ser153Pro) -
-/. - c.553+11T>C benign r.(=) p.(=) -
+/+ 6i c.554-1G>A pathogenic r.? p.? -
+/+ 6i c.554-1G>A pathogenic r.? p.? -
+/+ 6i c.554-1G>A pathogenic r.? p.? -
+/+ 6i c.554-1G>A pathogenic r.? p.? -
+/+ 6i c.554-1G>A pathogenic r.? p.? -
+/+ 6i c.554-1G>A pathogenic r.? p.? -
?/. - c.584C>A VUS r.(?) p.(Ala195Glu) -
+?/. 8 c.584C>A - r.(?) p.(Ala195Glu) -
?/. 8 c.608G>A - r.(?) p.(Ser203Asn) -
+/+ 8 c.613C>T pathogenic r.(?) p.(Arg205*) Motor domain (57-771)
+/+ 8 c.613C>T pathogenic r.(?) p.(Arg205*) Motor domain (57-771)
+?/? 8 c.614G>A UV3 (ACMG: 3) r.(?) p.(Arg205Gln) Motor domain (57-771)
+?/? 8 c.614G>A UV3 (ACMG: 3) r.(?) p.(Arg205Gln) Motor domain (57-771)
+?/? 8 c.647A>T UV3 (ACMG: 3) r.(?) p.(Glu216Val) Motor domain (57-771)
+?/? 9 c.734A>G UV3 (ACMG: 3) r.(?) p.(Tyr245Cys) Motor domain (57-771)
+?/? 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)
+/+ 10 c.862_865del pathogenic r.(?) p.(Asp288Asnfs*18) Motor domain (57-771)
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771)
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771)
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771)
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771)
+?/? 10 c.897G>T UV3 (ACMG: 3) r.817_897del p.(Tyr273_Glu299del) Motor domain (57-771)
+?/? 11 c.1015C>T UV3 (ACMG: 3) r.(?) p.(Arg339Trp) Motor domain (57-771)
-?/. - c.1025C>T likely benign r.(?) p.(Ala342Val) -
-?/. - c.1025C>T likely benign r.(?) p.(Ala342Val) -
-?/. - c.1025C>T likely benign r.(?) p.(Ala342Val) -
-/. - c.1176A>G benign r.(?) p.(=) -
+?/? 12 c.1211del - r.(?) p.(Gly404fs) -
+?/. 12 c.1211del - r.(?) p.(Gly404Glufs*4) -
?/. - c.1220T>C VUS r.(?) p.(Ile407Thr) -
-?/. - c.1224-4A>G likely benign r.spl? p.? -
?/. - c.1296T>G VUS r.(?) p.(Phe432Leu) -
+?/? 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+?/? 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
+/+ 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)
?/. - c.1398C>G VUS r.(?) p.(Asn466Lys) -
+/. 14 c.1473_1475delinsC - r.spl? p.? -
+?/? 15i c.1546+1G>T - r.spl p.? -
+/. - c.1546+1G>T pathogenic r.spl? p.? -
+?/. 15i c.1546+1G>T - r.spl p.? -
?/. - c.1617T>G VUS r.(?) p.(Ser539Arg) -
+/. - c.1625_1626del pathogenic r.(?) p.(His542Leufs*22) -
?/. - c.1703A>G VUS r.(?) p.(His568Arg) -
-/. - c.1722C>T benign r.(?) p.(=) -
?/. - c.1733T>A VUS r.(?) p.(Ile578Asn) -
?/. - c.1753G>T VUS r.(?) p.(Ala585Ser) -
-?/. - c.1767A>G likely benign r.(?) p.(=) -
+?/. 18 c.1897del - r.(?) p.(Gln633Lysfs*19) -
-?/. - c.1903G>A likely benign r.(?) p.(Ala635Thr) -
-?/. - c.1926C>T likely benign r.(?) p.(=) -
+/+ 19 c.1975C>T pathogenic r.(?) p.(Arg659*) Motor domain (57-771)
+/+ 19 c.1975C>T pathogenic r.(?) p.(Arg659*) Motor domain (57-771)
+/+ 19 c.1975C>T pathogenic r.(?) p.(Arg659*) Motor domain (57-771)
+/. - c.1975C>T pathogenic r.(?) p.(Arg659*) -
?/. - c.1999C>T VUS r.(?) p.(Arg667Cys) -
?/. - c.2345A>G VUS r.(?) p.(Lys782Arg) -
+?/. - c.2416+5G>A likely pathogenic r.spl? p.? -
+/+ 23i c.IVS23+2321T>G pathogenic r.[=,2286_2287insNG_009934.1:g.139947_140054] p.(Phe763Trpfs*6) Motor domain (57-771)
+/+ 23i c.IVS23+2321T>G pathogenic r.[=,2286_2287insNG_009934.1:g.139947_140054] p.(Phe763Trpfs*6) Motor domain (57-771)
?/. - c.2449T>G VUS r.(?) p.(Cys817Gly) -
+/+ 24 c.2473C>T pathogenic r.(?) p.(Arg825*) IQ (814-834)
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