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Variant (rsID / SNP)

rs76625999

SMC3

rs76625999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMC3. Location: chromosome 10, position 112,359,472. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMC3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:112359472
Cytoband
10q25.2
HGVS
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
Allele change
Synonymous_L777L

Associated conditions / phenotypes

Cornelia de Lange syndrome 3|History of neurodevelopmental disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.