Variant (rsID / SNP)

rs121918267

rs121918267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPBL. Location: chromosome 5, position 37,020,717. Clinical significance in the table: Pathogenic.

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Reference-table entries

NIPBLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:37020717
Cytoband: 5p13.2
HGVS: NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)
Allele change: Nonsense_R1723X

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.