Genomic variant #0000638658

Individual ID 00276267
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) g.?
Published as -
ISCN -
DB-ID DMD_000000 See all 31 reported entries
Variant remarks non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Lakshmi Bremadesam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. - c.? pathogenic (recessive) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000277414 DNA MLPA Nil - DMD 2 Lakshmi Bremadesam