Variant (rsID / SNP)
rs3744824
rs3744824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETBP1. Location: chromosome 18, position 42,531,237. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SETBP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:42531237
- Cytoband
- 18q12.3
- HGVS
- NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)
- Allele change
- Synonymous_S644S
Associated conditions / phenotypes
Schinzel-Giedion syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.