Variant #0000000475 (NC_000023.11:g.154532990C>T, NM_000402.4:c.1093G>A (G6PD))

Individual ID 00000088
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 Narazah Mohd Yusoff et al. (2002), dbSNP, (OMIM 0003), ClinVar
DB-ID G6PD_000008 See all 3 reported entries
dbSNP ID rs5030869
Frequency 1/73
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 15:38:38 +08:00 (CST)
Date last edited 2021-08-22 11:38:29 +08:00 (CST)
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.1093G>A G6PD Chatham r.(?) p.(Ala365Thr) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000101 DNA PCRm G6PD 8 Nuur Athirah Binti Mohd Daud