Variant #0000233490 (NC_000023.10:g.(31950253_31986532)_(33357493_?)del, DMD(NM_004006.2):c.-244_(6538_6706){0})

Individual ID 00142470
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.(31950253_31986532)_(33357493_?)del
DNA change (hg38) g.(31932136_31968415)_(33339376_?)del
Published as ex1ex45del; c.-244_(6614+1_6615-1)del
ISCN -
DB-ID DMD_010045
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Alessandra Ferlini
Database submission license No license selected
Created by Alessandra Ferlini
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_45i c.-244_(6538_6706){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000143310 DNA MLPA - - DMD 1 Alessandra Ferlini