Variant (rsID / SNP)

rs78365220

rs78365220 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_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
Allele change: Missense_L128P

Associated conditions / phenotypes

G6PD deficiency|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.