Variant (rsID / SNP)

rs786205885

rs786205885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,460,364. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAPSNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 11:47460364
Cytoband: 11p11.2
HGVS: NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)

Associated conditions / phenotypes

Congenital myasthenic syndrome 11|Congenital myasthenic syndrome

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.