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Variant (rsID / SNP)

rs41272669

CPS1

rs41272669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPS1. Location: chromosome 2, position 211,518,741. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CPS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:211518741
Cytoband
2q34
HGVS
NM_001875.5(CPS1):c.3481-8C>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.