Variant #0000000083 (NC_000023.11:g.154534495C>T, G6PD(NM_000402.4):c.577G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154534495C>T
Published as -
Reference O. Ainoon et al.(2003)dbSNP
DB-ID G6PD_000003 See all 8 reported entries
dbSNP ID rs137852314
Frequency 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 +/. 6 c.577G>A - r.(?) p.(Gly193Ser) - ClinVar