Variant (rsID / SNP)

rs56048668

rs56048668 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF1R. Location: chromosome 5, position 149,460,542. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CSF1RBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:149460542
Cytoband: 5q32
HGVS: NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly)
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.