Variant (rsID / SNP)

rs5030869

rs5030869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PD. Clinical significance in the table: Pathogenic.

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Reference-table entries

G6PDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
Allele change: Missense_A335T

Associated conditions / phenotypes

G6PD CHATHAM|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to

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.