Variant (rsID / SNP)

rs8192708

rs8192708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCK1. Location: chromosome 20, position 56,138,621. Clinical significance in the table: Benign.

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Reference-table entries

PCK1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:56138621
Cytoband: 20q13.31
HGVS: NM_002591.4(PCK1):c.799A>G (p.Ile267Val)
Allele change: Missense_I267V

Associated conditions / phenotypes

Phosphoenolpyruvate carboxykinase deficiency, cytosolic

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.