Variant (rsID / SNP)

rs1057520339

rs1057520339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,637,762. Clinical significance in the table: Pathogenic.

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Reference-table entries

NSD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:176637762
Cytoband: 5q35.3
HGVS: NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
Allele change: Nonsense_R519X

Associated conditions / phenotypes

Beckwith-Wiedemann syndrome|Acute myeloid leukemia|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.