Genomic variant #0000643802

Individual ID 00286839
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(32717218_32827701)_(33229611_33357493)del
DNA change (hg38) g.(32699101_32809584)_(33211494_33339376)del
Published as del ex1-7
ISCN -
DB-ID DMD_010107 See all 5 reported entries
Variant remarks -
Reference -
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 Shubha R Phadke
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 0i_7i c.-244(_-182)_(558_831+11)del pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000288003 DNA MLPA - - DMD 1 Shubha R Phadke