Genomic variant #0000594703

Individual ID 00263031
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.[(32305740_32328364)_(32563359_32583959)dup;(32717218_32827701)_(32841459_32862936)dup]
DNA change (hg38) g.[(32287623_32310247)_(32545242_32565842)dup;(32699101_32809584)_(32823342_32844819)dup]
Published as dup ex5-7 and ex17-42
ISCN -
DB-ID DMD_030542
Variant remarks non-contiguous duplication ex5-7 and ex17-42
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 +/. 4i_42i c.[(228_310)_(558_831+11)dup;(1852_2085)_(5952_6196)dup] pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000264137 DNA MLPA - - DMD 1 Chao Ling