Genomic variant #0000233920

Individual ID 00142891
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(32867938_33146179)_(33229430_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_040257
Variant remarks deletion muscle and Purkinje promoter
Reference PubMed: Carsana 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Antonella Carsana




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _1_1i_ c.(?_-1)_(31+83220_94-1)del pathogenic (recessive) r.0? p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000143731 DNA PCRq; PCR - - DMD 1 Antonella Carsana