Genomic variant #0000232401

Individual ID 00141350
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(33038318_33146179)_(33357726_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_040258 See all 4 reported entries
Variant remarks deletion incl. Dp427c, Dp427p
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_1i c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive) r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000142190 DNA MAPH;PCRm - - DMD 1 Ayfer Ulgenalp