Variant (rsID / SNP)
rs137852318
rs137852318 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.
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.934G>C (p.Asp312His)
- Allele change
- Missense_D282H
Associated conditions / phenotypes
G6PD SEATTLE-LIKE|G6PD MODENA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.