Genomic variant #0000235526

Chromosome 9
Allele Unknown
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 expression cloning in rat MUSK; MuSK catalytic kinase activity unaffected, reduced expression/stability MuSK with decreased agrin-dependent AChR aggregation
Reference PubMed: Chevessier 2004, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
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