Genomic variant #0000593894

Individual ID 00262222
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31893385_31947815)_(31986532_32235089)del
DNA change (hg38) g.(31875268_31929698)_(31968415_32216972)del
Published as del ex45-47 and dup ex51-52
ISCN -
DB-ID DMD_034552
Variant remarks non-contiguous deleletion ex45-47 and duplication ex51-52
Reference PubMed: Ling 2020, Journal: Ling 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Clinical classification pathogenic (recessive)
Classification method -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Chao Ling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. 44i_47i c.(6382_6538)_(6810_7018)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000263328 DNA MLPA - - DMD 2 Chao Ling