Genomic variant #0000628774

Individual ID 00273657
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(32867903_33038290)_(33229611_33357493)dup
DNA change (hg38) g.(32849786_33020173)_(33211494_33339376)dup
Published as ex1ex2dup, c.-244_93+?dup
ISCN -
DB-ID DMD_020102 See all 2 reported entries
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 Vincenzo Nigro
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 0i_2i c.-244(_-182)_(59_128)dup pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000274814 DNA MLPA - - DMD 1 Vincenzo Nigro