Variant (rsID / SNP)
rs72869687
rs72869687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN11A. Location: chromosome 3, position 38,888,735. Clinical significance in the table: Benign.
Reference-table entries
SCN11ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:38888735
- Cytoband
- 3p22.2
- HGVS
- NM_001349253.2(SCN11A):c.4826C>T (p.Thr1609Ile)
- Allele change
- Missense_T1609I
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.