Variant (rsID / SNP)

rs137852321

rs137852321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PD. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

G6PDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000402.4(G6PD):c.1250G>A (p.Arg417His)
Allele change: Missense_R387H

Associated conditions / phenotypes

G6PD BEVERLY HILLS|Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.