Variant (rsID / SNP)
rs587784076
rs587784076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,637,210. Clinical significance in the table: Pathogenic.
Reference-table entries
NSD1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:176637210
- Cytoband
- 5q35.3
- HGVS
- NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
- Allele change
- Nonsense_R335X
Associated conditions / phenotypes
Sotos syndrome 1|Beckwith-Wiedemann syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.