Genomic variant #0000626240

Individual ID 00271199
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.?
DNA change (hg38) -
Published as 9669C>T (Arg3223*Ter)
ISCN -
DB-ID DMD_000000 See all 31 reported entries
Variant remarks -
Reference PubMed: Yang 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/100 cases BMD/DMD
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 67 c.? pathogenic (recessive) r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000272350 DNA MLPA;SEQ - - DMD 1 Johan den Dunnen