Variant (rsID / SNP)

rs121909257

rs121909257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,464,332. 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: 11:47464332
Cytoband: 11p11.2
HGVS: NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)
Allele change: Missense_A189V

Associated conditions / phenotypes

Fetal akinesia deformation sequence 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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