Variant #0000000451 (NC_000023.11:g.154532257C>T, NM_000402.4:c.1478G>A (G6PD))

Individual ID 00000083
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154532257C>T
Published as G6PD Anant
Reference O Ainoon et al. (1999), dbSNP, (OMIM 0029), ClinVar
DB-ID G6PD_000005 See all 10 reported entries
dbSNP ID rs72554664
Frequency 13/38
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-25 10:43:32 +08:00 (CST)
Date last edited 2021-08-22 10:38:17 +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.1478G>A G6PD Anant r.(?) p.(Arg493His) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000096 DNA PCRm G6PD 4 Nuur Athirah Binti Mohd Daud