Genomic variant #0000211412

Individual ID 00122126
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.31241159C>G
DNA change (hg38) g.31223042C>G
Published as -
ISCN -
DB-ID DMD_000232
Variant remarks RNA MyoD fibroblasts
Reference PubMed: Roest
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 Ieke Ginjaar
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. 64i c.9361+5G>C r.9361_9362ins9361+1_9361+57 p.Leu3121Cysfs*17



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122594 DNA;RNA PTT - - DMD 1 Ieke Ginjaar