Variant (rsID / SNP)

rs121434541

rs121434541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH15. Location: chromosome 16, position 89,249,963. 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: 16:89249963
Cytoband: 16q24.3
HGVS: NM_004933.3(CDH15):c.365C>T (p.Ala122Val)
Allele change: Missense_A122V

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.