Variant (rsID / SNP)

rs145987330

rs145987330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,638,235. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NSD1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:176638235
Cytoband: 5q35.3
HGVS: NM_022455.5(NSD1):c.2835T>C (p.Ser945_Thr946=)
Allele change: Synonymous_S676S

Associated conditions / phenotypes

Beckwith-Wiedemann syndrome|History of neurodevelopmental disorder|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.