Genomic variant #0000245340

Individual ID 00151364
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31986532_32235089)_(32663242_32716088)dup
DNA change (hg38) g.(31968415_32216972)_(32645125_32697971)dup
Published as dup ex10-44
ISCN -
DB-ID DMD_021044 See all 3 reported entries
Variant remarks -
Reference PubMed: López-Hernández 2015
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Luz Berenice Lopez-Hernandez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. 9i_44i c.(859_988)_(6382_6538)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152219 DNA MLPA - - DMD 1 Luz Berenice Lopez-Hernandez