Genomic variant #0000230239

Individual ID 00139197
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31893385_31947815)_(33229611_?)del
DNA change (hg38) g.(31875268_31929698)_(33211494_?)del
Published as c.-244_(6912+1_6913-1)del
ISCN -
DB-ID DMD_010047
Variant remarks deletion incl. Dp427c
Reference -
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 Ieke Ginjaar




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_47i c.-244_(6810_7018)del pathogenic (recessive) r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000140037 DNA MLPA - - DMD 1 Ieke Ginjaar