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.[(31697577_31747779)_(31792196_31838078)dup;(31893385_31947815)_(31986532_32235089)del]
DNA change (hg38) g.[(31679460_31729662)_(31774079_31819961)dup;(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 Ling 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Chao Ling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 44i_52i c.[(6382_6538)_(6810_7018)del;(7309+14_7423)_(7629_7787)dup] pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000263328 DNA MLPA - - DMD 1 Chao Ling