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Variant (rsID / SNP)

rs56245238

RAPSN

rs56245238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,469,421. 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
11:47469421
Cytoband
11p11.2
HGVS
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
Allele change
Synonymous_D158D

Associated conditions / phenotypes

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

Public references

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