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Variant (rsID / SNP)

rs104894300

RAPSN

rs104894300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,470,476. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAPSNPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:47470476
Cytoband
11p11.2
HGVS
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)
Allele change
Missense_L14P

Associated conditions / phenotypes

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

Public references

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