Variant (rsID / SNP)

rs587784096

rs587784096 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,638,491. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NSD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:176638491
Cytoband: 5q35.3
HGVS: NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
Allele change: Nonsense_R762X

Associated conditions / phenotypes

Sotos 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.