Variant (rsID / SNP)

rs200214298

rs200214298 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPS1. Location: chromosome 2, position 211,444,453. Clinical significance in the table: Pathogenic.

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Reference-table entries

CPS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:211444453
Cytoband: 2q34
HGVS: NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)
Allele change: Missense_G169R

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.