Genomic variant #0000470912

Individual ID 00228538
Chromosome X
Allele Maternal (confirmed)
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.32632539G>A
DNA change (hg38) g.32614422G>A
Published as 1339C>T (Gly447*)
ISCN -
DB-ID DMD_003014 See all 3 reported entries
Variant remarks description corrected after contact with authors
Reference PubMed: Ma 2018
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)     

RNA change     

Protein     
DMD NM_004006.2 +/. 12 c.1363C>T r.(?) p.(Gln455*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000229628 DNA SEQ - - DMD 1 Johan den Dunnen