Variant #0000211732 (NC_000023.10:g.31889894_31897438del, DMD(NM_004006.2):c.6913-3947_7098+3412del)

Individual ID 00122404
Chromosome X
Allele Parent #1
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.31889894_31897438del
DNA change (hg38) g.31871777_31879321del
Published as -
ISCN -
DB-ID DMD_000965
Variant remarks junction 7
Reference PubMed: Toffolatti
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +/. 47i_48i c.6913-3947_7098+3412del r.(6913_7098del) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122872 DNA SEQ - - DMD 1 Johan den Dunnen