Variant #0000000498 (NC_000023.11:g.154546061T>C, G6PD(NM_000402.4):c.185A>G)

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.154546061T>C
Published as G6PD Gaohe
Reference M F Alina et al. (2020), dbSNP, (OMIM 0044), ClinVar
DB-ID G6PD_000011 See all 4 reported entries
dbSNP ID rs137852340
Frequency 3/98
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
Options




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.185A>G G6PD Gaohe r.(?) p.(His62Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000105 DNA PCRm G6PD 10 Nuur Athirah Binti Mohd Daud