Variant (rsID / SNP)
rs61744451
rs61744451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,637,211. Clinical significance in the table: Benign.
Reference-table entries
NSD1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:176637211
- Cytoband
- 5q35.3
- HGVS
- NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu)
- Allele change
- Missense_R335L
Associated conditions / phenotypes
Sotos syndrome 1|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.