Variant (rsID / SNP)

rs121434539

rs121434539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH15. Location: chromosome 16, position 89,245,959. Clinical significance in the table: Likely benign.

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Reference-table entries

CDH15Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:89245959
Cytoband: 16q24.3
HGVS: NM_004933.3(CDH15):c.178C>T (p.Arg60Cys)
Allele change: Missense_R60C

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 3

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.