Variant (rsID / SNP)

rs114854233

rs114854233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN11A. Location: chromosome 3, position 38,888,682. 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: 3:38888682
Cytoband: 3p22.2
HGVS: NM_001349253.2(SCN11A):c.4879T>C (p.Tyr1627His)
Allele change: Missense_Y1627H

Associated conditions / phenotypes

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

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.