Genomic variant #0000235519

Individual ID 00143830
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.113562838C>T
DNA change (hg38) g.110800558C>T
Published as A727V
ISCN -
DB-ID MUSK_000014
Variant remarks -
Reference PubMed: Maselli 2010, Journal: Maselli 2010
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 +/. 15 c.2180C>T - r.(?) p.(Ala727Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144689 DNA SEQ - - MUSK 2 Johan den Dunnen