Variant (rsID / SNP)
rs78247455
rs78247455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,722,005. Clinical significance in the table: Benign.
Reference-table entries
NSD1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:176722005
- Cytoband
- 5q35.3
- HGVS
- NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
- Allele change
- Missense_A2277T
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.