Variant (rsID / SNP)

rs715

rs715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPS1. Location: chromosome 2, position 211,543,055. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:211543055
Cytoband: 2q34
HGVS: NM_001875.5(CPS1):c.*346T>C
Allele change: Silent

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.