Genomic variant #0000062799

Individual ID 00035604
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.32404616A>T
DNA change (hg38) g.32386499A>T
Published as -
ISCN -
DB-ID DMD_001223 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs72468639
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00987 View details
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 -/. 32i c.4519-34T>A benign r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035674 DNA SEQ - - DMD 1 Andreas Laner