Transcript #00025237

Transcript name transcript variant 1
Gene name MUSK (muscle, skeletal, receptor tyrosine kinase)
Chromosome 9
Transcript - NCBI ID NM_005592.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005583.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

44 entries on 1 page. Showing entries 1 - 44.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. 3i c.? - r.(?) p.(=)
+/. 1 c.40dup - r.40dup p.Thr14Asnfs*9
+/. 1i_3i c.(79+1_80-1)_(358+1_359-1)del - r.80_358del p.Ala27_Lys120delinsGlu
+/. 2 c.114T>A - r.114u>a p.Asp38Glu
-/. 2i c.206+28A>T - r.(?) p.(=)
+/. 3 c.(220dup) - r.(?) p.(fs*)
?/. - c.220C>T VUS r.(?) p.(Arg74Trp)
+/. 3 c.220dup - r.(?) p.(fs*)
+/. 3 c.220dup - r.(?) p.(fs*)
+/. 3 c.224A>C - r.(224a>c) p.(Tyr75Ser)
-/. 3 c.225C>T - r.(=) p.(Tyr75=)
?/. 3 c.251T>C - r.(?) p.(Leu84Pro)
-/. - c.299C>T benign r.(?) p.(Thr100Met)
?/. - c.320G>A VUS r.(?) p.(Gly107Glu)
-/. 4 c.402G>A - r.(?) p.(=)
-/. 4 c.402G>A - r.(=) p.(Glu144=)
+?/. 4 c.467del - r.(?) p.(Lys156Argfs*20)
+/. 4 c.467del - r.(?) p.(Lys156Argfs*20)
-/. - c.537C>T benign r.(=) p.(=)
-/. 5 c.537C>T - r.(?) p.(=)
-/. 5i c.629-5606G>A - r.(?) p.(=)
+/. 9 c.1031C>G - r.(?) p.(Pro344Arg)
+/. 9 c.1031C>G - r.(?) p.(Pro344Arg)
-?/. - c.1062G>A likely benign r.(=) p.(=)
-/. - c.1239G>A benign r.(?) p.(Met413Ile)
+?/. 13 c.1634T>C - r.(?) p.(Leu545Pro)
+/. - c.1724T>C pathogenic r.(?) p.(Ile575Thr)
+/. 13 c.1724T>C - r.(?) p.(Ile575Thr)
+/. 14 c.1724T>C - r.(?) p.(Ile575Thr)
+?/. 13 c.1742T>A - r.(?) p.(Ile581Asn)
+/. 14 c.1815G>A - r.(?) p.(Met605Ile)
-/. - c.1927+50T>C benign r.(=) p.(=)
-/. 15 c.1941C>T - r.(=) p.(=)
-?/. - c.1941C>T likely benign r.(=) p.(=)
-?/. - c.1991A>G likely benign r.(?) p.(Asn664Ser)
?/. 15 c.2002C>T - r.(?) p.(Arg668Cys)
+/. 15 c.2180C>T - r.(?) p.(Ala727Val)
+/. 15 c.(2368G>A) - r.(?) p.Val790Met
+/. 15 c.2368G>A - r.(?) p.(Val790Met)
+/. 15 c.2368G>A - r.(?) p.(Val790Met)
+/. 15 c.2368G>A - r.(?) p.(Val790Met)
+/. 15 c.2368G>A - r.(?) p.(Val790Met)
?/. - c.2443G>T VUS r.(?) p.(Val815Leu)
+/. 15 c.2503A>G - r.(?) p.(Met835Val)
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