Variant #0000731969 (NC_000023.10:g.(31137438_31137488)_(31519566_31519616)del, DMD(NM_004006.2):c.(8391-4555_8391-4505)_(*2548_*2598)del)

Individual ID 00332932
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.(31137438_31137488)_(31519566_31519616)del
DNA change (hg38) g.(31501449_31501499)_(31119321_31119371)del
Published as del ex57-79
ISCN -
DB-ID DMD_038423
Variant remarks 382,1kb deletion
Reference PubMed: Nallamilli 2021, Journal: Nallamilli 2021
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Madhuri Hegde
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 +/. 56i_79 c.(8391-4555_8391-4505)_(*2548_*2598)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000334156 DNA SEQ-NG saliva - DMD 1 Madhuri Hegde