Variant #0000000507 (NC_000023.11:g.154536168G>C, G6PD(NM_000402.4):c.221C>G)

Individual ID 00000091
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154536168G>C
Published as G6PD Orissa
Reference M F Alina et al. (2020), dbSNP, (OMIM 0047), ClinVar
DB-ID G6PD_000007 See all 4 reported entries
dbSNP ID rs78478128
Frequency 1/36
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
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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.221C>G G6PD Orissa r.(?) p.(Ala74Gly) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000106 DNA PCRm G6PD 8 Nuur Athirah Binti Mohd Daud