Variant (rsID / SNP)
rs34165241
rs34165241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,721,151. Clinical significance in the table: Benign.
Reference-table entries
NSD1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:176721151
- Cytoband
- 5q35.3
- HGVS
- NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr)
- Allele change
- Missense_M1992T
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.