Variant (rsID / SNP)

rs121912777

rs121912777 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CES1. Location: chromosome 16, position 55,857,573. Clinical significance in the table: Pathogenic.

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Reference-table entries

CES1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:55857573
Cytoband: 16q12.2
HGVS: NM_001025195.2(CES1):c.428G>A (p.Gly143Glu)
Allele change: Missense_G142E

Associated conditions / phenotypes

DRUG METABOLISM, ALTERED, CES1-RELATED

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.