Variant (rsID / SNP)

rs199693962

rs199693962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC5A7. Location: chromosome 2, position 108,627,103. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC5A7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:108627103
Cytoband: 2q12.3
HGVS: NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile)
Allele change: Missense_K510T

Associated conditions / phenotypes

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

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.