Genomic variant #0000232402

Individual ID 00141351
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.(31986632_32235032)_(33357726_?)del
DNA change (hg38) g.(31968515_32216915)_(33339609_?)del
Published as -
ISCN -
DB-ID DMD_050044
Variant remarks deletion incl. Dp427c
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 Ayfer Ulgenalp
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_44i c.-244_(6438+1_6439-1)[0] r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000142191 DNA MAPH;PCRm - - DMD 1 Ayfer Ulgenalp