Variant (rsID / SNP)

rs869025212

rs869025212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAP1. Location: chromosome 3, position 52,437,444. Clinical significance in the table: Pathogenic.

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Reference-table entries

BAP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:52437444
Cytoband: 3p21.1
HGVS: NM_004656.4(BAP1):c.1717del (p.Leu573fs)

Associated conditions / phenotypes

BAP1 Cancer Syndrome|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome|Melanoma, uveal, susceptibility to, 2

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.