Genomic variant #0000211739

Individual ID 00122410
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.31839742_31928553del
DNA change (hg38) g.31821625_31910436del
Published as -
ISCN -
DB-ID DMD_001068
Variant remarks junction 4
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 47i c.6912+19160_7201-1542del pathogenic (recessive) r.(6913_7200del) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122878 DNA SEQ - - DMD 1 Johan den Dunnen