Variant (rsID / SNP)

rs137853583

rs137853583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPI. Location: chromosome 19, position 34,884,949. Clinical significance in the table: Pathogenic.

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Reference-table entries

GPIPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:34884949
Cytoband: 19q13.11
HGVS: NM_000175.5(GPI):c.1040G>A (p.Arg347His)
Allele change: Missense_R358H

Associated conditions / phenotypes

Hemolytic anemia due to glucophosphate isomerase 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.