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Variant (rsID / SNP)

rs33985936

SCN11A

rs33985936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN11A. Location: chromosome 3, position 38,936,134. Clinical significance in the table: Benign.

Reference-table entries

SCN11ABenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
3:38936134
Cytoband
3p22.2
HGVS
NM_001349253.2(SCN11A):c.2725G>A (p.Val909Ile)
Allele change
Missense_V909I

Associated conditions / phenotypes

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

Public references

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