Variant (rsID / SNP)

rs606231273

rs606231273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETBP1. Location: chromosome 18, position 42,531,181. Clinical significance in the table: Pathogenic.

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Reference-table entries

SETBP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:42531181
Cytoband: 18q12.3
HGVS: NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)
Allele change: Nonsense_R626X

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 29|Intellectual disability, autosomal dominant 29|Schinzel-Giedion syndrome

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.