Variant (rsID / SNP)

rs121912592

rs121912592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPS1. Location: chromosome 2, position 211,465,360. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CPS1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:211465360
Cytoband: 2q34
HGVS: NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)
Allele change: Missense_T550M

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.