Variant (rsID / SNP)

rs150269814

rs150269814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN11A. Location: chromosome 3, position 38,950,530. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCN11ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:38950530
Cytoband: 3p22.2
HGVS: NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
Allele change: Missense_K419N

Associated conditions / phenotypes

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

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.