Variant (rsID / SNP)

rs797045813

rs797045813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,638,949. Clinical significance in the table: Pathogenic.

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Reference-table entries

NSD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 5:176638949
Cytoband: 5q35.3
HGVS: NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)

Associated conditions / phenotypes

Sotos syndrome 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.