Variant (rsID / SNP)

rs143491867

rs143491867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN7A. Location: chromosome 2, position 167,300,128. Clinical significance in the table: Benign.

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Reference-table entries

SCN7ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:167300128
Cytoband: 2q24.3
HGVS: NM_002976.4(SCN7A):c.1685A>G (p.Tyr562Cys)
Allele change: Silent

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.