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Variant (rsID / SNP)

rs1050828

G6PD

rs1050828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PD. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

G6PDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Cytoband
Xq28
HGVS
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
Allele change
Missense_V68M

Associated conditions / phenotypes

G6PD ASAHI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|X-linked parkinsonism-spasticity syndrome|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|See cases

Public references

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