Variant (rsID / SNP)

rs398123544

rs398123544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PD. Clinical significance in the table: Uncertain significance.

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Reference-table entries

G6PDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001360016.2(G6PD):c.1037A>T (p.Asn346Ile)
Allele change: Missense_N346I

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.