Variant (rsID / SNP)

rs137852326

rs137852326 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.727G>T (p.Val243Leu)
Allele change: Missense_V213L

Associated conditions / phenotypes

G6PD GASTONIA|G6PD MINNESOTA|G6PD MARION|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Abnormal glucose-6-phosphate dehydrogenase level

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.