Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201058019

CPS1

rs201058019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPS1. Location: chromosome 2, position 211,471,671. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CPS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:211471671
Cytoband
2q34
HGVS
NM_001875.5(CPS1):c.2192+6A>T
Allele change
Silent

Associated conditions / phenotypes

Congenital hyperammonemia, type I

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.