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Variant (rsID / SNP)

rs34312154

RAPSN

rs34312154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,470,345. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RAPSNBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:47470345
Cytoband
11p11.2
HGVS
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
Allele change
Missense_R58C

Associated conditions / phenotypes

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