Variant (rsID / SNP)

rs80358354

rs80358354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPBL. Location: chromosome 5, position 37,006,500. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NIPBLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:37006500
Cytoband: 5p13.2
HGVS: NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
Allele change: Synonymous_L1299L

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.