Variant #0000630094 (NC_000023.10:g.(?_31138513)_(33357494_?)del, DMD(NM_004006.2):c.-244_(*1524_?){0})

Individual ID 00274818
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.(?_31138513)_(33357494_?)del
DNA change (hg38) g.(?_31120396)_(33339377_?)del
Published as del ex1-79
ISCN -
DB-ID DMD_010079 See all 8 reported entries
Variant remarks -
Reference PubMed: Vieitez 2017
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/284 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
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_79 c.-244_(*1524_?){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275978 DNA MLPA - - DMD 1 Johan den Dunnen