Genomic variant #0000470197

Individual ID 00227965
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32472950_32472951inv
DNA change (hg38) -
Published as 3433-2_ 3433-1invAG
ISCN -
DB-ID DMD_003821
Variant remarks -
Reference PubMed: Wang 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 25i c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000229051 DNA SEQ-NG - - DMD 1 Johan den Dunnen