Variant (rsID / SNP)
rs199639292
rs199639292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,562,097. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NSD1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:176562097
- Cytoband
- 5q35.3
- HGVS
- NM_022455.5(NSD1):c.-8G>A
- Allele change
- Silent
Associated conditions / phenotypes
Sotos syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.