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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
-/. 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
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