Variant #0000002302 (NC_000023.11:g.32699198G>A, NM_004006.3:c.745C>T (DMD))

Individual ID 00000509
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32699198G>A
Published as -
Reference Abdul Qawee Rani et al.(2013)
DB-ID DMD_000006
dbSNP ID rs72551316
Frequency 1/35
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 2021-03-14 10:45:31 +08:00 (CST)
Date last edited 2021-09-13 08:29:57 +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 +/. 8 c.745C>T - r.(?) p.(Gln249*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000556 DNA MLPA DMD 2 Nur Aisyah Athirah