Genomic variant #0000486639

Individual ID 00239712
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_31138512)_(31838078_31854946)del
DNA change (hg38) g.(?_31120395)_(31819961_31836829)del
Published as del ex50-79; c.(7200+1_7201-1)_*2691[0]
ISCN -
DB-ID DMD_015079 See all 12 reported entries
Variant remarks -
Reference PubMed: Tomar 2019
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Poh San Lai




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.? p.(fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240815 DNA MLPA - - DMD 1 Poh San Lai