Genomic variant #0000211681

Individual ID 00122362
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.33224673_33230872delinsTAATTTTAAAAA
DNA change (hg38) g.33206556_33212755delinsTAATTTTAAAAA
Published as -1443_31+4726delins12
ISCN -
DB-ID DMD_001359
Variant remarks 6.2 kb deletion
Reference PubMed: Bastianutto 2002, {GenBankAF373844}
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _1_1i c.-1443_31+4726delinsTTTTTAAAATTA pathogenic (recessive) r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122830 DNA PCR;SEQ - - DMD 1 Johan den Dunnen