Variant (rsID / SNP)

rs200927313

rs200927313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETBP1. Location: chromosome 18, position 42,531,133. Clinical significance in the table: Likely benign.

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Reference-table entries

SETBP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:42531133
Cytoband: 18q12.3
HGVS: NM_015559.3(SETBP1):c.1828G>A (p.Val610Ile)
Allele change: Missense_V610I

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.