Variant (rsID / SNP)
rs80358368
rs80358368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIPBL. Location: chromosome 5, position 37,061,048. Clinical significance in the table: Pathogenic.
Reference-table entries
NIPBLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 5:37061048
- Cytoband
- 5p13.2
- HGVS
- NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
Associated conditions / phenotypes
Cornelia de Lange syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.