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Variant (rsID / SNP)

rs150296373

NSD1

rs150296373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,638,793. 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
5:176638793
Cytoband
5q35.3
HGVS
NM_022455.5(NSD1):c.3393C>T (p.Asn1131_Gly1132=)
Allele change
Synonymous_N862N

Associated conditions / phenotypes

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

Public references

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