Variant (rsID / SNP)

rs387906848

rs387906848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAP1. Location: chromosome 3, position 52,436,624. Clinical significance in the table: Pathogenic.

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Reference-table entries

BAP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:52436624
Cytoband: 3p21.1
HGVS: NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)
Allele change: Nonsense_Q684X

Associated conditions / phenotypes

BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome

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.