Variant (rsID / SNP)

rs121909255

rs121909255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,469,411. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAPSNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:47469411
Cytoband: 11p11.2
HGVS: NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)
Allele change: Missense_E162K

Associated conditions / phenotypes

Congenital myasthenic syndrome 11|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1

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.