Variant (rsID / SNP)

rs34813787

rs34813787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH3. Location: chromosome 16, position 68,732,169. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDH3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:68732169
Cytoband: 16q22.1
HGVS: NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser)
Allele change: Missense_G786S

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.