Variant #0000000453 (NC_000023.11:g.154532969G>A, NM_000402.4:c.1114C>T (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.154532969G>A
Published as -
Reference O Ainoon et al. (1999), dbSNP, (OMIM 0046), ClinVar
DB-ID G6PD_000012 See all 3 reported entries
dbSNP ID rs137852342
Frequency 1/38
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 11:09:30 +08:00 (CST)
Date last edited 2021-08-22 10:42:18 +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.1114C>T - r.(?) p.(Leu372Phe) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000096 DNA PCRm G6PD 4 Nuur Athirah Binti Mohd Daud