Variant #0000796616 (NC_000023.10:g.(31697577_31743342)_(31944322_31947815)del, DMD(NM_004006.2):c.(6912+1_6913-1)_()del)

Individual ID 00381554
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.(31697577_31743342)_(31944322_31947815)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_068350
Variant remarks -
Reference PubMed: Shastry 2021
ClinVar ID -
dbSNP ID -
Origin De novo
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_52i c.(6912+1_6913-1)_()del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000382770 DNA MLPA;SEQ;SEQ-NG - DMD custom capture DMD 1 Johan den Dunnen