Genomic variant #0000062809

Individual ID 00035614
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.32717311del
DNA change (hg38) g.32699194del
Published as 750delA
ISCN -
DB-ID DMD_003154
Variant remarks -
Reference -
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 Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. 8 c.750del r.(?) p.(Val251Trpfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035684 DNA SEQ - - DMD 1 Andreas Laner