Variant #0000795375 (NC_000023.10:g.(31986532_32235089)_(33357493_?)del, DMD(NM_004006.2):c.-244__(6382_6538)del)

Individual ID 00380598
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.(31986532_32235089)_(33357493_?)del
DNA change (hg38) g.(31968415_32216972)_(33339377_?)del
Published as del exDp427c-44; c.-128297_6438+?)del
ISCN -
DB-ID DMD_010044 See all 7 reported entries
Variant remarks -
Reference PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/152 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Luisa Guevara Gil
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_44i c.-244__(6382_6538)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381811 DNA MLPA - - DMD 1 Maria Luisa Guevara Gil