Variant #0000845198 (NC_000023.10:g.(32429909_32456439)_(32509574_32519969)del, DMD(NM_004006.2):c.(2293-10_2442)_(3990_4193)del)

Individual ID 00407070
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.(32429909_32456439)_(32509574_32519969)del
DNA change (hg38) g.(32411792_32438322)_(32491457_32501852)del
Published as del ex20-29
ISCN -
DB-ID DMD_012029 See all 5 reported entries
Variant remarks -
Reference PubMed: Verma 2012, Journal: Verma 2012
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 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 +/. 19i_29i c.(2293-10_2442)_(3990_4193)del r.? p.(fs)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000408317 DNA MLPA P034/P035 - DMD 1 Johan den Dunnen