Variant (rsID / SNP)

rs145092287

rs145092287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTPS1. Location: chromosome 1, position 41,475,832. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CTPS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:41475832
Cytoband: 1p34.2
HGVS: NM_001905.4(CTPS1):c.1692-1G>C
Allele change: Silent

Associated conditions / phenotypes

Severe combined immunodeficiency due to CTPS1 deficiency

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.