Variant #0000597625 (NC_000023.10:g.(31893385_31947815)_(33357493_?)del, DMD(NM_004006.2):c.-244_(6810_7018){0})

Individual ID 00265682
Chromosome X
Allele Unknown
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.(31893385_31947815)_(33357493_?)del
DNA change (hg38) g.(31875268_31929698)_(33339376_?)del
Published as Dp427cex47del, (c.-244_6912+?del)
ISCN -
DB-ID DMD_010047 See all 2 reported entries
Variant remarks -
Reference PubMed: Neri 2020, Journal: Neri 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Milena Cau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_47i c.-244_(6810_7018){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000266805 DNA MLPA - - DMD 1 Milena Cau