Variant (rsID / SNP)

rs118204085

rs118204085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKLR. Location: chromosome 1, position 155,262,968. Clinical significance in the table: Pathogenic.

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Reference-table entries

PKLRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:155262968
Cytoband: 1q22
HGVS: NM_000298.6(PKLR):c.1436G>A (p.Arg479His)
Allele change: Missense_R448H

Associated conditions / phenotypes

Pyruvate kinase deficiency of red cells

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.