Variant (rsID / SNP)

rs8191371

rs8191371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPI. Location: chromosome 19, position 34,868,776. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GPIBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:34868776
Cytoband: 19q13.11
HGVS: NM_000175.5(GPI):c.623T>C (p.Ile208Thr)
Allele change: Missense_I219T

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.