Variant (rsID / SNP)

rs2291703

rs2291703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPBL. Location: chromosome 5, position 36,976,160. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NIPBLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:36976160
Cytoband: 5p13.2
HGVS: NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
Allele change: Missense_N384S

Associated conditions / phenotypes

Cornelia de Lange syndrome 1

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.