Variant (rsID / SNP)

rs140295451

rs140295451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBBP8. Location: chromosome 18, position 20,570,963. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RBBP8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:20570963
Cytoband: 18q11.2
HGVS: NM_002894.3(RBBP8):c.871A>G (p.Lys291Glu)
Allele change: Missense_K291E

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.