Variant (rsID / SNP)

rs777417522

rs777417522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAP1. Location: chromosome 3, position 52,437,664. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BAP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:52437664
Cytoband: 3p21.1
HGVS: NM_004656.4(BAP1):c.1497C>T (p.Ile499=)
Allele change: Synonymous_I499I

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.