Genomic variant #0000094314

Individual ID 00043912
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31792310_31838091)_(31893491_31947712)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_014850 See all 253 reported entries
Variant remarks -
Reference PubMed: Ramos 2016, Journal: Ramos 2016
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 Manuel F. Mas Rodriguez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 47i_50i c.(6912+1_6913-1)_(7309+1_7310-1)del pathogenic (recessive) r.(del) p.(fs?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000063266 DNA ? - - DMD 1 Manuel F. Mas Rodriguez