Variant (rsID / SNP)

rs146193261

rs146193261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETBP1. Location: chromosome 18, position 42,531,184. Clinical significance in the table: Benign.

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Reference-table entries

SETBP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:42531184
Cytoband: 18q12.3
HGVS: NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys)
Allele change: Missense_R627C

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.