Variant (rsID / SNP)

rs3822471

rs3822471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPBL. Location: chromosome 5, position 36,985,303. Clinical significance in the table: Benign.

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Reference-table entries

NIPBLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:36985303
Cytoband: 5p13.2
HGVS: NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
Allele change: Missense_N674S

Associated conditions / phenotypes

Cornelia de Lange syndrome 1|History of neurodevelopmental disorder

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.