Variant #0000716532 (NC_000023.10:g.(31854947_31893386)_(33229612_33357494)del, DMD(NM_004006.2):c.-244(_-183)_(7017_7099-11)del)

Individual ID 00330715
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.(31854947_31893386)_(33229612_33357494)del
DNA change (hg38) g.(31836830_31875269)_(33211495_33339377)del
Published as del ex1-48
ISCN -
DB-ID DMD_010148 See all 2 reported entries
Variant remarks possible overlap with cases from Ling 2020
Reference PubMed: Tong 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 Yi Dai
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_48i c.-244(_-183)_(7017_7099-11)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000331934 DNA MLPA - - DMD 1 Yi Dai