Variant (rsID / SNP)

rs137852334

rs137852334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PD. Clinical significance in the table: Pathogenic; other.

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Reference-table entries

G6PDPathogenic

Clinical significance (as recorded): Pathogenic; other
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
Allele change: Missense_R387C

Associated conditions / phenotypes

G6PD GUADALAJARA|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.