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Variant (rsID / SNP)

rs398124386

NSD1

rs398124386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,721,966. 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
5:176721966
Cytoband
5q35.3
HGVS
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
Allele change
Missense_L2264V

Associated conditions / phenotypes

Beckwith-Wiedemann syndrome|Sotos syndrome 1

Public references

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