Genomic variant #0000245215

Individual ID 00151179
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(32841459_32862936)_(33038290_33229611)dup
DNA change (hg38) g.(32823342_32844819)_(33020173_33211494)dup
Published as dup ex2-4; c.(31+1_32-1)_(264+1_265-1)dup
ISCN -
DB-ID DMD_020204 See all 15 reported entries
Variant remarks -
Reference PubMed: Cho 2017
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 Moon-Woo Seong




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152034 DNA MLPA - - DMD 1 Moon-Woo Seong