Variant (rsID / SNP)
rs137852327
rs137852327 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PD. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
G6PDPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_000402.4(G6PD):c.961G>A (p.Val321Met)
- Allele change
- Missense_V291M
Associated conditions / phenotypes
G6PD VIANGCHAN|G6PD JAMMU|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficient hemolytic anemia|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.