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Variant (rsID / SNP)

rs104894294

RAPSN

rs104894294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,469,405. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RAPSNPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:47469405
Cytoband
11p11.2
HGVS
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
Allele change
Missense_R164C

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.