Genomic variant #0000230656

Individual ID 00139614
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_030009
Variant remarks erroneously reported as non-contiguous deletion of exons Dp427c-11 excl. exon 2 (correct is duplication exons Dp427c-9 excl. exon 2)
Reference PubMed: Schwartz 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marianne Schwartz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_9_ c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000140454 DNA MLPA - - DMD 1 Marianne Schwartz