Variant #0000000485 (NC_000023.11:g.154532389C>T, NM_000402.4:c.1451G>A (G6PD))

Individual ID 00000015
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154532389C>T
Published as -
Reference O Ainoon et al. (2003), dbSNP, (OMIM 0020), ClinVar
DB-ID G6PD_000009
dbSNP ID rs137852324
Frequency 1/86
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2020-10-26 10:43:45 +08:00 (CST)
Date last edited 2021-09-13 13:09:33 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
G6PD NM_000402.4 ?/. - c.1451G>A - r.(?) p.(Arg484His) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000103 DNA PCR G6PD 8 MyHVP