Genomic variant #0000213916

Individual ID 00124265
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33357927_33357928del
DNA change (hg38) g.33339810_33339811del
Published as Dp427c:-545_-547delAG
ISCN -
DB-ID DMD_002276
Variant remarks -
Reference PubMed: Flanigan 2009
ClinVar ID -
dbSNP ID rs72470543
Origin Germline
Segregation -
Frequency 1/606
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.-128499_-128498del likely benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000124733 DNA PCR;SEQ - - DMD 1 Kevin Flanigan