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Variant (rsID / SNP)

rs138404783

SCN10A

rs138404783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN10A. Location: chromosome 3, position 38,793,804. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN10AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:38793804
Cytoband
3p22.2
HGVS
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
Allele change
Missense_L554P

Associated conditions / phenotypes

Episodic pain syndrome, familial, 2|Brugada syndrome

Public references

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