Variant #0000002694 (NC_000023.11:g.31929704_31929707del, DMD(NM_004006.3):c.6804_6807del)

Individual ID 00000608
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.31929704_31929707del
Published as -
Reference Abdul Qawee Rani et al.(2013)
DB-ID DMD_000010
dbSNP ID rs886044490
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
DMD NM_004006.3 +/. - c.6804_6807del c.6804delACAA r.(?) p.(Lys2268Asnfs*2) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000674 DNA MLPA DMD 1 Nur Aisyah Athirah