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

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
Date created 2021-05-03 13:02:09 +08:00 (CST)
Date last edited 2021-08-01 14:17:36 +08:00 (CST)
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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