Full data view for gene MUSK

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005592.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 3i c.? - r.(?) p.(=) Unknown g.? - IVS3-20T>C - MUSK_000004 - PubMed: Chevessier 2004 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.40dup - r.40dup p.Thr14Asnfs*9 Both (homozygous) g.113431224dup g.110668944dupA - - MUSK_000011 whole exome sequencing, no NMD; parents share 4.0 Mb haplotype PubMed: Wilbe 2015, Journal: Wilbe 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? - PubMed: Wilbe 2015, Journal: Wilbe 2015 2-generation family, five affected children/fetuses, unaffected heterozygous carrier parents - no Sweden - - 0 - - 5 Johan den Dunnen
+/. 1i_3i c.(79+1_80-1)_(358+1_359-1)del - r.80_358del p.Ala27_Lys120delinsGlu Paternal (inferred) g.? - - - MUSK_000013 deletion detected on RNA PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - 0 - - 2 Johan den Dunnen
+/. 2 c.114T>A - r.114u>a p.Asp38Glu Maternal (confirmed) g.113444988T>A g.110682708T>A - - MUSK_000012 - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - 0 - - 2 Johan den Dunnen
-/. 2i c.206+28A>T - r.(?) p.(=) Unknown g.113445108A>T g.110682828A>T IVS2+28A>T - MUSK_000003 - PubMed: Chevessier 2004 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.(220dup) - r.(?) p.(fs*) Unknown g.113449410dup g.110687130dup - - MUSK_000001 expression cloning in rat MUSK; absence MUSK expression PubMed: Chevessier 2004, OMIM:var0002 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.220C>T VUS r.(?) p.(Arg74Trp) Unknown g.113449410C>T - MUSK:c.220C>T (R74W) - MUSK_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.220dup - r.(?) p.(fs*) Paternal (confirmed) g.113449410dup g.110687130dup 220insC - MUSK_000001 no variants CHRNE, RAPSN; not in 200 control chromosomes; father unaffected carrier PubMed: Chevessier 2004, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Chevessier 2004 - F no (France) - >27y 0 - - 2 Johan den Dunnen
+/. 3 c.220dup - r.(?) p.(fs*) Paternal (confirmed) g.113449410dup g.110687130dup 220insC - MUSK_000001 no variants CHRNE, RAPSN; not in 200 control chromosomes PubMed: Chevessier 2004, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Chevessier 2004 deceased older brother 15496425-Pat2 M no (France) - 1y6m 0 - - 1 Johan den Dunnen
+/. 3 c.224A>C - r.(224a>c) p.(Tyr75Ser) Both (homozygous) g.113449414A>C g.110687134A>C - - MUSK_000024 - - - - Germline - - - 0 - DNA SEQ-NG-I - - FADS - - - F yes - - - 0 - - 1 Elisa De Franco
-/. 3 c.225C>T - r.(=) p.(Tyr75=) Parent #1 g.113449415C>T g.110687135C>T - - MUSK_000023 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 3 c.251T>C - r.(?) p.(Leu84Pro) Unknown g.113449441T>C - - - MUSK_000033 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I - - CMS - - - M no Spain - >50y 0 - 3,4-diaminopyridine and ephedrine 1 Fernando Ostos
-/. - c.299C>T benign r.(?) p.(Thr100Met) Unknown g.113449489C>T - MUSK:c.299C>T (T100M) - MUSK_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.320G>A VUS r.(?) p.(Gly107Glu) Unknown g.113449510G>A - MUSK:c.320G>A (G107E) - MUSK_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.402G>A - r.(=) p.(Glu144=) Parent #1 g.113457726G>A g.110695446G>A - - MUSK_000005 - - - rs10980531 Germline - frequency up to 0,31% - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 4 c.402G>A - r.(?) p.(=) Unknown g.113457726G>A g.110695446G>A G>A (E134) - MUSK_000005 - PubMed: Chevessier 2004 - - Germline - 60/200 - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 60 Johan den Dunnen
+?/. 4 c.467del - r.(?) p.(Lys156Argfs*20) Paternal (confirmed) g.113457791del g.110695511delA - - MUSK_000008 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - F - Italy - - 0 - - 1 Tom Winder
+/. 4 c.467del - r.(?) p.(Lys156Argfs*20) Paternal (confirmed) g.113457791del g.110695511delA - - MUSK_000008 - PubMed: Maggi 2015 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Maggi 2015 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents - no Italy - - 0 - - 2 Johan den Dunnen
-/. 5 c.537C>T - r.(?) p.(=) Unknown g.113459655C>T g.110697375C>T C>T (N179) - MUSK_000006 - PubMed: Chevessier 2004 - - Germline - 54/200 - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 54 Johan den Dunnen
-/. - c.537C>T benign r.(=) p.(=) Unknown g.113459655C>T - MUSK:c.537C>T (=) - MUSK_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5i c.629-5606G>A - r.(?) p.(=) Parent #1 g.113490925G>A g.110728645G>A - - MUSK_000021 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 9 c.1031C>G - r.(?) p.(Pro344Arg) Paternal (confirmed) g.113530210C>G g.110767930C>G - - MUSK_000007 no variants DOK7, COLQ; linkage LOD >3.0; not in 200 control chromosomes PubMed: Mihaylova 2009 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Mihaylova 2009 2-generation family, 5 affecteds (3M, 2F), fatherand maternal grandmother first-degree cousins - - Sudan - - 0 - - 6 Johan den Dunnen
+/. 9 c.1031C>G - r.(?) p.(Pro344Arg) Maternal (confirmed) g.113530210C>G g.110767930C>G - - MUSK_000007 no variants DOK7, COLQ; linkage LOD >3.0; not in 200 control chromosomes PubMed: Mihaylova 2009 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Mihaylova 2009 2-generation family, 5 affecteds (3M, 2F), fatherand maternal grandmother first-degree cousins - - Sudan - - 0 - - 6 Johan den Dunnen
-?/. - c.1062G>A likely benign r.(=) p.(=) Unknown g.113530241G>A - MUSK:c.1062G>A (T354=) - MUSK_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1239G>A benign r.(?) p.(Met413Ile) Unknown g.113538122G>A - MUSK:c.1239G>A (M413I) - MUSK_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1634T>C - r.(?) p.(Leu545Pro) Paternal (confirmed) g.113547854T>C g.110785574T>C - - MUSK_000018 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - CMS-9 Case 2 Owen, submitted - M no India - - 0 - - 1 Ana Topf
+/. 13 c.1724T>C - r.(?) p.(Ile575Thr) Both (homozygous) g.113547944T>C g.110785664T>C - - MUSK_000010 homozygosity mapping PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 12-generation family, 14 affecteds (7F, 7M), unaffected heterozygous carrier parents - - Netherlands - - 0 - - 14 Johan den Dunnen
+/. 14 c.1724T>C - r.(?) p.(Ile575Thr) Both (homozygous) g.113547944T>C g.110785664T>C g.113547944T>C - MUSK_000010 - PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 - - Germline - - - 0 - DNA SEQ - - ? - - - - yes Netherlands Dutch - 0 - - 1 Janneke Weiss
+/. - c.1724T>C pathogenic r.(?) p.(Ile575Thr) Unknown g.113547944T>C - MUSK:c.1724T>C (I575T) - MUSK_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1742T>A - r.(?) p.(Ile581Asn) Both (homozygous) g.113547962T>A g.110785682T>A - - MUSK_000017 - - - - Germline yes - - 0 - DNA SEQ-NG blood - CMS-9 Case 1 Owen, submitted - M ? India Labbay sect - 0 - - 1 Ana Topf
+/. 14 c.1815G>A - r.(?) p.(Met605Ile) Maternal (confirmed) g.113550006G>A g.110787726G>A M605I - MUSK_000015 - PubMed: Maselli 2010, Journal: Maselli 2010 - - Germline - - SfcI+ 0 - DNA SEQ - - ? - PubMed: Maselli 2010, Journal: Maselli 2010 2-generation family, patient and unaffected heterozygous carrier parents/sib F no United States - - 0 - - 1 Johan den Dunnen
-/. - c.1927+50T>C benign r.(=) p.(=) Unknown g.113550168T>C - MUSK:c.1927+50T>C - MUSK_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 15 c.1941C>T - r.(=) p.(=) Parent #1 g.113562599C>T g.110800319C>T - - MUSK_000022 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.1941C>T likely benign r.(=) p.(=) Unknown g.113562599C>T - MUSK:c.1941C>T (V647=) - MUSK_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1991A>G likely benign r.(?) p.(Asn664Ser) Unknown g.113562649A>G - MUSK:c.1991A>G (N664S) - MUSK_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 15 c.2002C>T - r.(?) p.(Arg668Cys) Unknown g.113562660C>T g.110800380C>T - - MUSK_000009 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - France - - 0 - - 1 Damien Sternberg
+/. 15 c.2180C>T - r.(?) p.(Ala727Val) Paternal (confirmed) g.113562838C>T g.110800558C>T A727V - MUSK_000014 - PubMed: Maselli 2010, Journal: Maselli 2010 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Maselli 2010, Journal: Maselli 2010 2-generation family, patient and unaffected heterozygous carrier parents/sib F no United States - - 0 - - 1 Johan den Dunnen
+/. 15 c.(2368G>A) - r.(?) p.Val790Met Unknown g.113563026G>A g.110800746G>A - - MUSK_000002 expression cloning in rat MUSK; MuSK catalytic kinase activity unaffected, reduced expression/stability MuSK with decreased agrin-dependent AChR aggregation PubMed: Chevessier 2004, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 15 c.2368G>A - r.(?) p.(Val790Met) Maternal (confirmed) g.113563026G>A g.110800746G>A - - MUSK_000002 no variants CHRNE, RAPSN; not in 200 control chromosomes; mother and brother unaffected carrier PubMed: Chevessier 2004, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Chevessier 2004 - F no (France) - >27y 0 - - 2 Johan den Dunnen
+/. 15 c.2368G>A - r.(?) p.(Val790Met) Maternal (confirmed) g.113563026G>A g.110800746G>A - - MUSK_000002 no variants CHRNE, RAPSN; not in 200 control chromosomes PubMed: Chevessier 2004, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Chevessier 2004 deceased older brother 15496425-Pat2 M no (France) - 1y6m 0 - - 1 Johan den Dunnen
+/. 15 c.2368G>A - r.(?) p.(Val790Met) Maternal (confirmed) g.113563026G>A g.110800746G>A - - MUSK_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - F - Italy - - 0 - - 1 Tom Winder
+/. 15 c.2368G>A - r.(?) p.(Val790Met) Maternal (confirmed) g.113563026G>A g.110800746G>A - - MUSK_000002 - PubMed: Maggi 2015 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Maggi 2015 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents - no Italy - - 0 - - 2 Johan den Dunnen
?/. - c.2443G>T VUS r.(?) p.(Val815Leu) Unknown g.113563101G>T - MUSK:NM_001166280.1:c.2185G>T, NM_001166281.1:c.2155G>T, … - MUSK_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 15 c.2503A>G - r.(?) p.(Met835Val) Both (homozygous) g.113563161A>G g.110800881A>G - - MUSK_000016 not in 400 control chromosomes PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - 0 - - 1 Johan den Dunnen
Legend