Variant #0000628774 (NC_000023.10:g.(32867904_33038291)_(33229612_33357494)dup, DMD(NM_004006.2):c.-244(_-183)_(58_127){2})

Individual ID 00273657
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.(32867904_33038291)_(33229612_33357494)dup
DNA change (hg38) g.(32849787_33020174)_(33211495_33339377)dup
Published as ex1ex2dup, c.-244_93+?dup
ISCN -
DB-ID DMD_020102 See all 3 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Vincenzo Nigro
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 +/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000274814 DNA MLPA - - DMD 1 Vincenzo Nigro