Variant (rsID / SNP)

rs281860274

rs281860274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF1R. Location: chromosome 5, position 149,435,843. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CSF1RPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:149435843
Cytoband: 5q32
HGVS: NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)
Allele change: Silent

Associated conditions / phenotypes

Hereditary diffuse leukoencephalopathy with spheroids

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.