Variant #0000000499 (NC_000023.11:g.154532990C>T, G6PD(NM_000402.4):c.1093G>A)

Individual ID 00000090
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154532990C>T
Published as G6PD Chatham
Reference M F Alina et al. (2020), dbSNP, (OMIM 0003), ClinVar
DB-ID G6PD_000008 See all 3 reported entries
dbSNP ID rs5030869
Frequency 3/98
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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
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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.1093G>A G6PD Chatham r.(?) p.(Ala365Thr) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000105 DNA PCRm G6PD 10 Nuur Athirah Binti Mohd Daud