Variant (rsID / SNP)

rs28383586

rs28383586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCK1. Location: chromosome 20, position 56,136,646. Clinical significance in the table: Likely benign.

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Reference-table entries

PCK1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:56136646
Cytoband: 20q13.31
HGVS: NM_002591.4(PCK1):c.179T>C (p.Met60Thr)
Allele change: Missense_M60T

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.