Variant (rsID / SNP)

rs113856002

rs113856002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSD1. Location: chromosome 5, position 176,638,789. 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: 5:176638789
Cytoband: 5q35.3
HGVS: NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
Allele change: Missense_E861G

Associated conditions / phenotypes

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.