Genomic variant #0000235507

Individual ID 00143821
Chromosome 9
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113449410dup
DNA change (hg38) g.110687130dup
Published as 220insC
ISCN -
DB-ID MUSK_000001 See all 3 reported entries
Variant remarks no variants CHRNE, RAPSN; not in 200 control chromosomes; father unaffected carrier
Reference PubMed: Chevessier 2004, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MUSK NM_005592.3 +/. 3 c.220dup - r.(?) p.(fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144680 DNA SEQ - - MUSK 2 Johan den Dunnen