Transcript #00014150

Transcript name myosin, light chain 3, alkali; ventricular, skeletal, slow
Gene name MYL3 (myosin, light chain 3, alkali; ventricular, skeletal, slow)
Chromosome 3
Transcript - NCBI ID NM_000258.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000249.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

62 entries on 1 page. Showing entries 1 - 62.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-27C>T likely benign r.(=) p.(=)
-/. - c.-13C>T benign r.(=) p.(=)
?/. - c.4G>C VUS r.(?) p.(Ala2Pro)
?/. - c.4G>C VUS r.(?) p.(Ala2Pro)
?/. - c.10A>C VUS r.(?) p.(Lys4Gln)
-/. - c.69C>T benign r.(=) p.(=)
-?/. 1 c.69C>T likely benign r.(?) p.(=)
-/. 1 c.69C>T benign r.(?) p.(=)
-/. - c.69C>T benign r.(=) p.(=)
-/. - c.69G>A benign - -
-?/. - c.81T>C likely benign r.(=) p.(=)
-/. - c.129+44T>G benign - -
-/. - c.129+54_129+55del benign r.(=) p.(=)
-/. - c.130-14C>A benign - -
+/. 3 c.167A>G pathogenic r.(?) p.(Glu56Gly)
+/. 3 c.170C>A pathogenic r.(?) p.(Ala57Asp)
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly)
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly)
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly)
?/. - c.220G>A VUS r.(?) p.(Gly74Arg)
?/. - c.220G>A VUS r.(?) p.(Gly74Arg)
-/. - c.222G>A benign r.(=) p.(=)
?/. - c.235G>A VUS r.(?) p.(Val79Ile)
+/. 3 c.242G>A pathogenic r.(?) p.(Arg81Gln)
-/. - c.247G>A benign - -
-?/. 3 c.261C>T likely benign r.(?) p.(=)
-/. - c.267G>A benign r.(=) p.(=)
+/. 3 c.281G>A pathogenic r.(?) p.(Arg94His)
-/. - c.307+15G>A benign - -
+/. 4 c.382G>T pathogenic r.(?) p.(Gly128Cys)
-?/. 4 c.399C>T likely benign r.(?) p.(=)
?/. - c.411G>T VUS r.(=) p.(=)
-/. 4 c.420C>T benign r.(?) p.(=)
?/. - c.421G>A VUS r.(?) p.(Asp141Asn)
?/. - c.427G>A VUS r.(?) p.(Glu143Lys)
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys)
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys)
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys)
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys)
?/. - c.439A>G VUS r.(?) p.(Thr147Ala)
+/. 4 c.445A>G pathogenic r.(?) p.(Met149Val)
+/. 4 c.445A>G pathogenic r.(?) p.(Met149Val)
+/. 4 c.454G>A pathogenic r.(?) p.(Glu152Lys)
?/. - c.460C>T - r.(?) p.(Arg154Cys)
+/. 4 c.461G>A pathogenic r.(?) p.(Arg154His)
+/. - c.461G>A pathogenic r.(?) p.(Arg154His)
+/. 4 c.463C>G pathogenic r.(?) p.(His155Asp)
+?/. - c.463C>T likely pathogenic r.(?) p.(His155Tyr)
+/. 4 c.466G>A pathogenic r.(?) p.(Val156Met)
+/. 4 c.466G>A pathogenic r.(?) p.(Val156Met)
?/. - c.476C>T - r.(?) p.(Thr159Met)
?/? ? c.476C>T - r.(?) p.(Thr159Met)
+?/. - c.476G>A likely pathogenic - -
-?/. - c.482-18G>A likely benign r.(=) p.(=)
-/. - c.482-17C>T benign r.(=) p.(=)
+/. 4i c.482-2A>G pathogenic r.482_559del p.Gly161_Glu186del
+?/. - c.517A>G likely pathogenic r.(?) p.(Met173Val)
+/. 5 c.517A>G pathogenic r.(?) p.(Met173Val)
-/. - c.559+6C>T benign r.(=) p.(=)
-?/. 5i c.559+6C>T likely benign r.= p.=
?/. - c.*8G>A VUS r.(=) p.(=)
?/. 7 c.*27G>A VUS r.(?) p.(=)
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