Variant (rsID / SNP)

rs2296405

rs2296405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH3. Location: chromosome 16, position 68,721,470. Clinical significance in the table: Benign.

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Reference-table entries

CDH3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:68721470
Cytoband: 16q22.1
HGVS: NM_001793.6(CDH3):c.1626T>C (p.Asn542=)
Allele change: Synonymous_N542N

Associated conditions / phenotypes

EEM syndrome|Congenital hypotrichosis with juvenile macular dystrophy

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.