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Variant (rsID / SNP)

rs186547381

FUS

rs186547381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUS. Location: chromosome 16, position 31,201,719. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FUSUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
16:31201719
Cytoband
16p11.2
HGVS
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)
Allele change
Silent

Associated conditions / phenotypes

Tremor, hereditary essential, 4|Amyotrophic lateral sclerosis type 6|Tremor, hereditary essential, 4|Frontotemporal dementia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.