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Variant (rsID / SNP)

rs201107889

SCN11A

rs201107889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN11A. Location: chromosome 3, position 38,888,494. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN11AUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:38888494
Cytoband
3p22.2
HGVS
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)
Allele change
Missense_F1689L

Associated conditions / phenotypes

Familial episodic pain syndrome with predominantly lower limb involvement|Hereditary sensory and autonomic neuropathy type 7|Charcot-Marie-Tooth disease|Hereditary motor neuron disease

Public references

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