Genomic variant #0000638593

Individual ID 00281720
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31950253_31986532)_(33229611_33357493)del
DNA change (hg38) g.(31932136_31968415)_(33211494_33339376)del
Published as del ex01ex45, c.1-?_6614+?del
ISCN -
DB-ID DMD_068105
Variant remarks -
Reference Neri, submitted 2020, Frontiers in Genetics
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 Filippo Maria Santorelli
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 0i_45i c.-244(_-182)_(6538_6706)del pathogenic (recessive) r.? p.fs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282866 DNA MLPA - - DMD 1 Filippo Maria Santorelli