Variant #0000000481 (NC_000023.11:g.154534390G>A, G6PD(NM_000402.4):c.682C>T)

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.154534390G>A
Published as -
Reference O Ainoon et al. (2003), dbSNP, (OMIM 0031), ClinVar
DB-ID G6PD_000006 See all 8 reported entries
dbSNP ID rs137852330
Frequency 3/86
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
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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.682C>T - r.(?) p.(Arg228Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000103 DNA PCR G6PD 8 MyHVP