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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 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
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