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Variant (rsID / SNP)

rs140229717

NSD1

rs140229717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,675,289. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NSD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:176675289
Cytoband
5q35.3
HGVS
NM_022455.5(NSD1):c.4605C>T (p.Arg1535_Gly1536=)
Allele change
Synonymous_R1266R

Associated conditions / phenotypes

Weaver syndrome|Sotos syndrome|Beckwith-Wiedemann syndrome|History of neurodevelopmental disorder|Sotos syndrome 1

Public references

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