Variant (rsID / SNP)

rs3818903

rs3818903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMC3. Location: chromosome 10, position 112,360,319. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMC3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:112360319
Cytoband: 10q25.2
HGVS: NM_005445.4(SMC3):c.2535+15T>G
Allele change: Silent

Associated conditions / phenotypes

Cornelia de Lange syndrome 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.