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Variant (rsID / SNP)

rs72554664

G6PD

rs72554664 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.1478G>A (p.Arg493His)
Allele change
Missense_R463H

Associated conditions / phenotypes

G6PD PETRICH-LIKE|G6PD SAPPORO-LIKE|G6PD ANANT|G6PD KAIPING|G6PD DHON|Malaria, susceptibility to|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases

Public references

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