Genomic variant #0000217124

Individual ID 00127542
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33357839T>G
DNA change (hg38) g.33339722T>G
Published as Dp427c:-457A>C
ISCN -
DB-ID DMD_001882
Variant remarks -
Reference PubMed: Flanigan 2009
ClinVar ID -
dbSNP ID rs66718538
Origin Germline
Segregation -
Frequency 67/637
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 c.-128410A>C benign r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000128010 DNA SEQ - - DMD 1 Kevin Flanigan