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Variant (rsID / SNP)

rs372586694

BAP1

rs372586694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAP1. Location: chromosome 3, position 52,443,571. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BAP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:52443571
Cytoband
3p21.1
HGVS
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser)
Allele change
Missense_G41S

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.