Variant (rsID / SNP)

rs80358367

rs80358367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPBL. Location: chromosome 5, position 36,955,642. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NIPBLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:36955642
Cytoband: 5p13.2
HGVS: NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
Allele change: Nonsense_R45X

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.