Variant (rsID / SNP)

rs10079250

rs10079250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF1R. Location: chromosome 5, position 149,450,132. Clinical significance in the table: Benign.

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Reference-table entries

CSF1RBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:149450132
Cytoband: 5q32
HGVS: NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg)
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.