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Variant (rsID / SNP)

rs267607038

SETBP1

rs267607038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETBP1. Location: chromosome 18, position 42,531,917. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SETBP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:42531917
Cytoband
18q12.3
HGVS
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
Allele change
Missense_I871T

Associated conditions / phenotypes

Schinzel-Giedion syndrome|Intellectual disability, autosomal dominant 29|Fetal akinesia deformation sequence 1|Arthrogryposis multiplex congenita

Public references

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