Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs574196735

SETBP1

rs574196735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETBP1. Location: chromosome 18, position 42,643,426. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SETBP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:42643426
Cytoband
18q12.3
HGVS
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)
Allele change
Synonymous_E1518E

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.