Variant #0000003050 (NC_000023.11:g.270438C>T, NM_000489.6:c.7156C>T (ATRX))

Individual ID 00000779
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.270438C>T
Published as -
Reference DOI:Zarina A. Latiff et al.(2013):10.3233/JPN-120598
DB-ID ATRX_000001 See all 2 reported entries
dbSNP ID rs122445099
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 2021-07-13 11:20:35 +08:00 (CST)
Date last edited 2021-08-01 13:24:48 +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     
ATRX NM_000489.6 +/. - c.7156C>T C7156T r.(?) p.(Arg2386*) Pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000873 DNA DHPLC;PCR;SEQ ATRX 1 Nur Aisyah Athirah