Variant #0000003022 (NC_000023.11:g.29431G>A, NM_007075.4:c.249G>A (WDR45))

Individual ID 00000760
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.29431G>A
Published as -
Reference Shen-Yang Lim et al.(2018)
DB-ID WDR45_000001
dbSNP ID rs1602539456
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 2021-07-06 09:02:56 +08:00 (CST)
Date last edited 2021-08-01 13:21:26 +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     
WDR45 NM_007075.4 +/. 6 c.249G>A - r.(?) p.(Trp83*) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000854 ? ? WDR45 1 Nur Aisyah Athirah