Variant (rsID / SNP)

rs117538515

rs117538515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMC3. Location: chromosome 10, position 112,364,392. Clinical significance in the table: Benign.

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Reference-table entries

SMC3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:112364392
Cytoband: 10q25.2
HGVS: NM_005445.4(SMC3):c.*332A>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.