Variant (rsID / SNP)

rs78478128

rs78478128 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.221C>G (p.Ala74Gly)
Allele change: Missense_A44G

Associated conditions / phenotypes

G6PD ORISSA|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.