Variant #0000002542 (NC_000023.11:g.48684414C>A, NM_000377.3:c.264C>A (WAS))

Individual ID 00000554
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.48684414C>A
Published as -
Reference Mohd Farid Baharin et al.(2015)
DB-ID WAS_000003 See all 2 reported entries
dbSNP ID rs1057520771
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 2021-04-01 10:59:49 +08:00 (CST)
Date last edited 2021-09-13 11:42:11 +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     
WAS NM_000377.3 +/. 2 c.264C>A - r.(?) p.(Tyr88*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000605 DNA PCR;SEQ WAS 1 Nur Aisyah Athirah