Variant (rsID / SNP)
rs118204087
rs118204087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKLR. Location: chromosome 1, position 155,270,062. Clinical significance in the table: Pathogenic.
Reference-table entries
PKLRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:155270062
- Cytoband
- 1q22
- HGVS
- NM_000298.6(PKLR):c.110G>A (p.Gly37Glu)
- Allele change
- Missense_G6E
Associated conditions / phenotypes
Pyruvate kinase hyperactivity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.