Genomic variant #0000235512

Individual ID 00143826
Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113459655C>T
DNA change (hg38) g.110697375C>T
Published as C>T (N179)
ISCN -
DB-ID MUSK_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Chevessier 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 54/200
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.12958 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 -/. 5 c.537C>T - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144685 DNA SEQ - - MUSK 1 Johan den Dunnen