Variant (rsID / SNP)

rs140547520

rs140547520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PFN1. Location: chromosome 17, position 4,849,268. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PFN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:4849268
Cytoband: 17p13.2
HGVS: NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)
Allele change: Missense_E117G

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 18

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.