Genomic variant #0000232679

Individual ID 00141662
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(32717218_32827701)_(33229611_?)del
DNA change (hg38) g.(32699101_32809584)_(33211494_?)del
Published as Dp427c,Dp427p; c.-244_(649+1_650-1)del
ISCN -
DB-ID DMD_010007
Variant remarks deletion incl. Dp427c
Reference PubMed: Flanigan 2009
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 Kevin Flanigan




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_7i c.-244_(558_831+11)del pathogenic (recessive) r.0 p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000142502 DNA PCR - - DMD 1 Kevin Flanigan