Genomic variant #0000594548

Individual ID 00262876
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.[(32486620_32490307)_(32490307_32503130)del;(32632499_32662405)_(32717218_32827701)dup]
DNA change (hg38) g.[(32468503_32472190)_(32472190_32485013)del;(32614382_32644288)_(32699101_32809584)dup]
Published as del ex22 and dup ex8-11
ISCN -
DB-ID DMD_030822
Variant remarks non-contiguous duplication ex8-11, deletion ex22
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 +/. 7i_22i c.[(558_831+11)_(1175_1403)dup;(2709_2923)_(2923_3157)del] pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000263982 DNA MLPA - - DMD 1 Chao Ling