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Variant (rsID / SNP)

rs149683345

RAPSN

rs149683345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,460,408. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAPSNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:47460408
Cytoband
11p11.2
HGVS
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)
Allele change
Synonymous_A288A

Associated conditions / phenotypes

Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome|Fetal akinesia deformation sequence 2

Public references

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