Variant (rsID / SNP)

rs121434543

rs121434543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH3. Location: chromosome 16, position 68,714,968. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDH3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:68714968
Cytoband: 16q22.1
HGVS: NM_001793.6(CDH3):c.965A>T (p.Asn322Ile)
Allele change: Missense_N322I

Associated conditions / phenotypes

EEM syndrome

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.