Variant (rsID / SNP)
rs13117
rs13117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF1R. Location: chromosome 5, position 149,433,120. Clinical significance in the table: Benign.
Reference-table entries
CSF1RBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149433120
- Cytoband
- 5q32
- HGVS
- NM_001288705.3(CSF1R):c.*512T>C
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary diffuse leukoencephalopathy with spheroids
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.