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Variant (rsID / SNP)

rs146942592

SCN11A

rs146942592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN11A. Location: chromosome 3, position 38,966,906. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN11AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:38966906
Cytoband
3p22.2
HGVS
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys)
Allele change
Missense_R238C

Associated conditions / phenotypes

Familial episodic pain syndrome with predominantly lower limb involvement|Hereditary sensory and autonomic neuropathy type 7

Public references

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