Variant (rsID / SNP)

rs138395129

rs138395129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPS1. Location: chromosome 2, position 211,540,550. Clinical significance in the table: Benign.

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Reference-table entries

CPS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:211540550
Cytoband: 2q34
HGVS: NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)
Allele change: Synonymous_L1426L

Associated conditions / phenotypes

Congenital hyperammonemia, type I

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.