Variant (rsID / SNP)
rs137853584
rs137853584 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPI. Location: chromosome 19, position 34,890,838. Clinical significance in the table: Pathogenic.
Reference-table entries
GPIPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:34890838
- Cytoband
- 19q13.11
- HGVS
- NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)
- Allele change
- Missense_I536T
Associated conditions / phenotypes
Hemolytic anemia due to glucophosphate isomerase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.