Genomic variant #0000235520

Individual ID 00143821
Chromosome 9
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113563026G>A
DNA change (hg38) g.110800746G>A
Published as -
ISCN -
DB-ID MUSK_000002 See all 5 reported entries
Variant remarks no variants CHRNE, RAPSN; not in 200 control chromosomes; mother and brother unaffected carrier
Reference PubMed: Chevessier 2004, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00024 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MUSK NM_005592.3 +/. 15 c.2368G>A - r.(?) p.(Val790Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144680 DNA SEQ - - MUSK 2 Johan den Dunnen