Variant (rsID / SNP)

rs3731684

rs3731684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC5A7. Location: chromosome 2, position 108,618,514. Clinical significance in the table: Benign.

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Reference-table entries

SLC5A7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:108618514
Cytoband: 2q12.3
HGVS: NM_021815.5(SLC5A7):c.741+18C>T
Allele change: Silent

Associated conditions / phenotypes

Neuronopathy, distal hereditary motor, type 7A|Congenital myasthenic syndrome 20

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.