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Variant (rsID / SNP)

rs116100695

PKLR

rs116100695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKLR. Location: chromosome 1, position 155,261,709. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PKLRPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:155261709
Cytoband
1q22
HGVS
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
Allele change
Missense_R455W

Associated conditions / phenotypes

Pyruvate kinase deficiency of red cells|Pyruvate kinase deficiency of red cells|Pyruvate kinase hyperactivity|Pyruvate kinase hyperactivity|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.