Genomic variant #0000211732

Individual ID 00122404
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.31889893_31897437del
DNA change (hg38) g.31871776_31879320del
Published as -
ISCN -
DB-ID DMD_000965
Variant remarks junction 7
Reference PubMed: Toffolatti
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     
DMD NM_004006.2 +/. 47i_48i c.6913-3947_7098+3412del pathogenic (recessive) r.(6913_7098del) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122872 DNA SEQ - - DMD 1 Johan den Dunnen